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Embryo and Fetal Pathology
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  • 206 b/w illus. 885 colour illus. 442 tables
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Index




Aarskog syndrome, 433

abdomen

   body wall defect of, 69, 300

   calcifications within, 118, 509

   circumference measurement method, 51

   enlarged, 50

   in situ examination at autopsy, 53

   lower half missing in infant of diabetic, 297

   organs situs inversus, 53

   skin flaps with umbilical artery/vein, 52

   sonographic evaluation of, 116, 507–512

      transducer setup for, 116

   thoracic/abdominal-circumference ratio, 127

abdominoschisis, secondary, 299

abortion

   conceptuses, examination of, 13–16

   defined, 14, 18, 24

   early, causes of, 18

   lupus erythematosus and, 157

   spontaneous, 14, 608

      incidence and types of chromosomal abnormalities in, 185

      risk associated with drinking, 286

abruptio placentae, 26, 36, 156

acardia: autopsy findings, 623

ACE inhibitors, defects from, 286

achondrogenesis

   clinical features, 400

   defined, 400

   incidence in live births, 424

   newborn radiograph, 401

   pathological features, 410

   radiological features, 400

   Type IA

      newborn, 401

      resting cartilage, 401

   Type IIA

      newborn, 402

      resting cartilage: photomicrograph, 402

      small fetus: radiograph, 402

achondroplasia (common dwarfism)

   defined, 394–396

   heterozygous newborn, 397

   homozygous newborn, 397

   homozygous, physeal growth zone, 397

   homozygous: radiological and pathologic features, 394

   incidence of cardiac malformations in, 433

acidemias, organic, 647–649

acrocephalosyndactyly syndromes, 375

acrocephaly, 378

acrodermatitis enteropathica, 584

acrofacial dysostosis, 433

acropustulosis of infancy, 588

acrorenal field defect, 433

adenovirus, 616

adrenal gland, in situ tumor, 560

adrenal hyperplasia, congenital, 535, 570–571

adrenal hypoplasia, types of congenital: characteristics and diagnosis, 532

adrenogenital syndrome, 535, 570–571

adrenoleukodystrophy, X-linked, 652

African trypanosomiasis, 618

aganglionic megacolon. See Hirschsprung disease

agnathia, 383

akinesia, fetal (multiple pterygia), 224, 598

Alagille syndrome, 433, 504

alcohol use

   congenital heart disease and, 129

   embryopathy from, 285–286

   health care costs from, 286

   miscarriage risk associated with, 286

   see also fetal alcohol syndrome

alkaptonuria, 637

alpha1-antitrypsin deficiency, 502

alveolar rhabdomyosarcoma. See rhabdomyosarcoma, alveolar

amelia in infant of diabetic mother, 296

American trypanosomiasis. See Chagas disease (South American trypanosomiasis)

amino acid disorders, 635

aminoaciduria, 638

aminopterin embryopathy, 290–292

amniocentesis complications, 40

amnion disruption sequence

   anomalies seen in, 303–305

   causes of, 301–303

   classification of disorders within, 302

   early, effects on fetus, 306

   outlined, 302

   temporal relationship of abnormalities in early, 303

   types of lesions in, 301

amnion nodosum, 166

amnionic sac

   3-D views of, 145, 146

   8th week appearance, 146

   within opened chorionic sac, 20

amniotic bands

   6-week embryo with, 304

   attached to head, 305

   attached to placenta, 305

   defined, 25, 169

   fetuses with, 301, 303

   fingers amputated and constricted by, 308, 306

   leg constriction from, 306

   microscopic appearance, 304

   on hands causing amputations, 306

   umbilical cord constriction from, 169, 306

   with fetal skin, 304

amniotic fluid

   anhydramnios, 123

   aspiration of, 481

   decreased production of, 123

   electrolyte concentration of, 89

   normal dynamics of, 321

   origin of, 89

   polyhydramnios, 90

   primary source of, 89

   volume

      after 40 weeks, 321

      at term, 321

      estimation of, 89, 318

   see also oligohydramnios; polyhydramnios

amniotic fluid index, 82, 90, 318

amniotic membranes

   in amnion nodosum, 166

   meconium staining of, 166

   smear with cytomegalovirus, 161

   squamous metaplasia of, 165

amphetamine use, maternal, 129, 466

anal atresia, 497

anemia, fetal, 152–154

anencephaly

   52-day embryo, with complete rachischisis, 339

   18-week fetus, with complete rachischisis, 339

   27-week fetus, with ‘Berét’ of brain tissue, 340

   cause of, 107

   defined, 338

   fetus with: sagittal image, 107

   from amniotic bands attached to fetus, 303

   heterotopic brain in, 475

   incidence of, 338

   kinds of cases, 338

   pathogenetic events sequence, 338–339

   reasons to suspect, 107

   recurrence risk for multifactorial, 338

   with spinal rachischisis, 340

   without rachischisis, 339

aneuploidy

   anomalies likely with, 103

   congenital heart disease and, 129, 466

   dysplasia in, effects of, 185

   facial clefts and, 115, 387

   gonadal effects of, 185

   incidence with ventriculomegaly, 105

   marker of, 112

   omphalocele and, 121, 511–512

   pathologic markers identifiable in, 185

   pre-screening risk of, 92

   risk assessments, 93–95, 106–107

   screening for multiple markers of, 93–94

   screening tool for, 84, 113

   serum screening for, 92–93

   single umbilical artery and, 133, 544–545

   sonographic markers of, utility of, 94

angiofibromas of facial skin in tuberous sclerosis, 258

angiomyolipomas of kidney in tuberous sclerosis, 259, 526

angiotensin-converting enzyme inhibitors, defects from, 286

anhydramnios, 123

annular pancreas, 506

anomalies, minor, versus mild malformations, 213

anomalous pulmonary venous connections

   partial, 445

   total, 445, 455

anophthalmia-plus (Fryns) syndrome, 249–251

anorectal malformations, 497–499

anterior fontanelle, 63

antibiotics, prophylactic, 36

anticonvulsant embryopathy, 285–286

anticonvulsants, 287

α1-antitrypsin deficiency, 502

anus

   atresia of, 497

   imperforate

      types of, 498

      with rectoperineal fistula, 499

      with rectovesical fistula, 499

aorta

   coarctation of, 452–453

      adult type, 203

      infantile, 203

   filled with macerated brain, 70

   Marfan syndrome: dissection, 262

   opened, 441

aorta-pulmonary confluence, in situ view, 441

aortic arch

   anatomy, 135–136

   double, vascular ring with, 457

   interrupted, 453

   sonographic evaluation of, 465

   strap vessels visible: sagittal image, 121

aortic atresia, 450

aortic stenosis, supravalvular, 450–451

aortic wall: dissection, 263

Apert syndrome

   craniosynostosis in, 376

   defined, 373–374

   features of, 376

   incidence of cardiac malformations in, 433

appendix, in situs inversus, 53

aprosencephaly, 345

arachnodactyly, 203

area cerebrovasculosa, 339

arhinencephaly

   defined, 345

   facial indicator of, 213

   illustration, 345

   trisomy 13, 193

Arnold-Chiari malformation, 350–352

arrhythmogenic right ventricular dysplasia, 458–459

arthrogryposis

   causes of, 225

   in 32-week fetus, 224

artifact-defect differentiation, 69–72

artifactual abdominal wall defects, 69, 70

arylsulfatase deficiencies

   arylsulfatase A, 644

   multiple (Austin disease), 645

ascites, fetal

   31-week fetus: ultrasound, 328

   causes of, 328–329

   chylous, 328

   in mucolipidosis II, 328

   urinary, 328

aspergillus infection, 620

   septicemia in newborn, 619

asphyxia, intrauterine, 30–31

asphyxiating thoracic dysplasia, type I

   defined, 405–406

   growth plate, 406

   neonate with, 406

      radiograph, 406

   outlined, 406

aspiration

   amniotic fluid, 40

   meconium, 40, 481

asplenia syndrome

   defined, 454

   diagram of organs in, 454

   in situ organs of 14-week fetus with, 454

   trilobed lungs, symmetrical, in, 475

associations, 211, 217

astrocytomas

   characteristics of, 572–573

   giant cell, in tuberous sclerosis, 259

   pilocystic: microscopic appearance, 573

atelencephaly, 345

atelosteogenesis, 420

atrial appendages

   arrangement of, 55–56

   left-sided morphologic right, 455

   right-sided morphologic right, 455

atrial septum

   absence of, 437–438

   defects in

      illustration of sites, 436

      ostium primum, 436–438

      ostium secundum, 436, 438

      septum secundum, 72, 438

      sinus venosus, 436

atrioventricular septal defect

   22-week, trisomy 21 fetus: ultrasound, 439

   double-outlet right ventricle with, 455

   intermediate, 438

   malaligned, and hypoplastic LV: ultrasound with color Doppler, 439

   prednisone and, 294

   septa: primum, secundum, interventricular, 439

auricular hillocks, 10

Austin disease (multiple sulfatase deficiency), 645

autopsy

   acardia, findings in, 623

   artifact-defect differentiation, 69–72

   cardiac conduction system examination, 60

   catheters and tubes during, 52

   checklist, 49

   chest plate removal, 53

   chromosome analysis, indications for, 52

   clinical information necessary, 49

   cytogenetic studies, indications for, 52

   dilatation and evacuation, 72–74

   equipment for, 48–49

   evisceration in

      basic issues, 58

      of brain, 61–63

      of external genitalia, 59–60

      of eyes, 66

      of pituitary, 65

      of spinal cord, 63–65

      of temporal bone, 66–67

      of tongue, 59

   external examination, 50–52

   eyes, incisions for removing, 66

   fetoplacental examination, 667

   heart perfusion-fixation, 68

   heart windowing, 68–69

   in situ examination

      abdomen, 53

      heart, 54–58

      lungs, 54

      thorax, 53–54

   incisions

      external genitalia removal with organ block, 59

      eyes removal, 66

      initial, 52–53

      ‘question-mark,’ 64, 65

      scalp-reflection, 62

      temporal bone removal, 67

      Y-shaped, illustration of, 52

   lung cultures during, 53

   measurements

      methods for taking, 50, 51

      to take, 50

   microscopic examination in, 69

   microscopic sections in, routine, 68

   organ block dissection, 67

   photographs in, 47

   placenta examination, 46

   pneumothorax, testing for, 53

   post-evisceration procedures, 60–61

   primary cause, path to, 667

   protocol for, 670

   roentgenographic examination, 47

   temporal bone removal

      cuts needed for, 67

      procedure, 66–67

   tissue sampling in, 52

azygos vein, 55

back, bulges in, from macerated brain, 70

basal cell carcinoma syndrome (Gorlin syndrome), 266–267

Batsocas-Papas syndrome (popliteal pterygium), 251–252

Batten disease. See neuronal ceroid lipofuscinosis (NCL)

‘BBB’ syndrome, 433

Beckwith-Wiedemann syndrome

   clinical manifestations, 231

   defined, 122

bHCG levels, 96

bile ducts, dilatation of, 503

biliary atresia, extrahepatic, 501, 505

biophysical profiles, 82

biparietal diameter (BPD)

   as age gauge, 310

   relationship between gestational age and, 675

biparietal-diameter/femur-length ratio

   by gestational age, 425

   standard deviations per gestational age, 132

Birbeck bodies: electronmicrograph, 599

birth defects. See congenital anomalies and malformations

birth trauma

   neonatal death and, 40

   occipital diastasis, 40–41

   skull fracture from forceps delivery, 41

   subgaleal hemorrhage, 41

birth weight, low

   defined, 310

   incidence of

      by gestational age, 311

      by society type, 310

      worldwide, 310

   morbidity and, 310

   quadruplet, 627

   very low, infants of, 33

bladder

   absent, 122

   dilated

      in 32-week fetus, 524

      ultrasound of, 523

      with keyhole urethral orifice: ultrasound, 523

   exstrophy of, 531

   not easily imaged, 124

   sonographic evaluation of, 85, 544

   with ureters, 73

blastocyst, 1

blastogenesis

   anomalies of, versus organogenetic anomalies, 222–223

   defects of, 209

   defined, 220, 222

   summary of, 3

blastomeres, 1

blighted ovum, 13, 15–16

blood dyscrasia, 40

blue nevus, 595

Bochdaleck hernia, 130

body mass index, 318

body stalk, 8

bone dysplasias, prenatal diagnosis of, 390

bone marrow with parvovirus B19 infection, 616

bones. See skeletal system

boomerang dysplasia, 420

borreliosis (lyme disease), 618–619

botryoid rhabdomyosarcoma. See rhabdomyosarcoma, botryoid

bowel

   atresias. See under intestinal disorders

   colon: normal diameter by gestational age, 509

   diameter of, 121

   dilated, 118–119, 121, 509–510

   echogenicity of, 117–118, 499, 508–509

   twin: separate small bowels with shared colon, 633

BPD. See biparietal diameter

Brachmann-De Lange syndrome, 231–232, 235

brachycephaly, 363

brachysyndactyly, 288

bradyarrhythmias, 467

bradycardia

   association with CHD, 129

   association with maternal collagen vascular disease, 467

   concomitant conditions, 136–137

   etiology, 136

   maternal collagen vascular disease and, 137, 467

   transient, 136, 466

brain

   13-gram microcephalic, 356

   5-week, developing: ultrasound, 338

   22-week hemorrhage, 33

   25-week: intracerebral hemorrhage, 33

   anencephalic; sagittal image, 107

   Berét of, 340

   cerebellar hemangioblastoma: microscopic appearance, 573

   cerebral cyst, in Seckel syndrome, 247

   cerebral surface in congenital toxoplasmosis, 606

   Chagas disease: parasitized microglial cells, 617

   cloverleaf appearance with bulging temporal lobes, 377

   corpus callosum missing: cross section, 359

   cross section in skull, 66

   cytomegalovirus infection, necrosis from, 611

   Dandy-Walker malformation with posterior fossa cyst, 352

   development of fetal, 337

   development of normal, 344

   early, 336

   edema, severe, 36

   gyral pattern on surface, in Smith-Lemli-Opitz syndrome, 242

   hamartoblastoma at base, 266

   heterotopic, 474, 475

   hydrocephalic, cross section, 351

   in kernicterus due to erythroblastosis fetalis, 326

   intraventricular hemorrhage, 33

   lesions from congenital toxoplasmosis, 607

   neurons distended (Pompe disease), 646

   occipital encephalocele, with, 64

   pachygyria

      in child with tuberous sclerosis, 357

      in tuberous sclerosis, 259

      in Zellweger syndrome, 250, 653

   periventricular leukomalacia, 36

   porencephalic cysts

      coronal section, 36

      following H.I.E.: ultrasound, 36

   removal at autopsy, 61–63

   removed, with calvaria, 63

   ‘swiss cheese,’ 297

      in surviving twin, 629

   trisomy 13: holoprosencephaly spectrum, 193

   trisomy 21, 188

   ventricle/hemisphere ratio, 104, 360

   ventricles

      abnormal dilation of, 104

      asymmetric within calvaria, 104

      ‘candle-guttering’ in, 258

      diameters, 104, 360

   with spinal cord and myelomeningocele intact, 65

   see also cerebellum, and specific disorders

brain tumors

   forms of, 572–573

   of childhood, 572

   pediatric, distribution by type, 571

   posterior fossa, 571

   presenting signs, 571–572

   types encountered, 572

branchial arches, 6–8, 10

bronchi

   bilateral morphological left, 455

   morphology of

      injection study to determine, 47

      normal, posterior view, 56

bronchial atresia, 129

bronchiectasis, 484

bronchoesophageal fistula types, 473

bronchogenic cysts, 130

bronchopulmonary dysplasia

   defined, 484

   progression of hyaline membrane disease to, 483

café-au-lait lesion in neurofibromatosis, 255

caliectasis, 124–125

calvaria

   in osteogenesis imperfecta, 412

   lemon-shaped cross-section, 104

calyx, 124

campomelic dysplasia

   clinical features, 420

   defined, 418

   femur, bent: ultrasound, 419

   femur, tibia, and fibula in, 419

   incidence of, 424

   incidence of cardiac malformations in, 433

   infant with, 419

   pathologic features, 420

   skeletal system: radiograph, 419

campylobacter (vibrio) fetus infection, 619–620

canalization, 336

Candida albicans, mycelial and yeast forms, 168

Candida infection

   of the infant, 168, 589, 619

   of umbilical cord, 168, 620

   septicemia from

      necrotizing lesions in newborn lung, 619

      newborn’s body, 619

      newborn’s face, 619

   more illustrations, 590

canthal distances, inner and outer, 50

capillary alveolar dysplasia, 481

cardiac conduction system examination, 60

cardiac function

   assessment protocol, 114

   hemangiomas and, 114–115

cardiac tumors, 570

cardiovascular defects

   arteriovenous shunts, 436–441

   categories of, 436

   chromosomal abnormalities with, 429–432

   disorders associated with, 431

   environmental causes of, 431

   incidence and etiology, 429–436

   incidence in multiple-malformation syndromes, 433

   obstructive lesions, 448–450

   selected malformation syndromes having, 437

   venous-arterial shunts, 441–448

cardiovascular system

   early, 6

   fetal circulation, simplified scheme of, 430

   see also cardiovascular defects

Carnegie staging, 1–12

carnitine deficiency

   cardiac effects from, 433

   carnitine metabolism and transport, 651

   lipid vacuoles of muscle biopsy from type I, 652

   overview of, 649–651

Caroli disease, 500

Carpenter syndrome

   defined, 377

   features of, 378

   illustrated, 378

cavitation, 76

CBDC. See chronic bullous disease of childhood

CCAM (CPAM). See congenital cystic adenomatoid malformations (congenital pulmonary airway malformation)

cebocephaly, 191, 344

central nervous system

   asymmetric within calvaria, 104

   defects in

      causes of, 336–338

      incidence of, 335, 337

   development of, 335–336

   first appearance, 5–6

   see also brain; spinal cord

cephalic bud, 21

cephalic index (CI), 13

cephalic pole with cyst, 21

cephaloceles

   causes of, 108, 361

   defined, 107, 361

   disorders seen with, 108, 361

   incidence of, 107, 361

   location of, 108, 361

   prognosis, 108, 361

   sonographic evaluation of, 108, 361

   syndromes seen in, 361

   types of, 107–108, 361

   see also encephaloceles

cerebellar vermis, 112, 364

cerebellum

   19-week fetus: axial image, 111

   abnormal incidence in cases of ONTD, 111

   axial image, 110

   banana-shaped, 111–112, 364

   hemangioblastomas of, 573

   herniation of, 64

   hypoplastic, 352

   invisibility of, 111, 364

   normal shape of, 112

   transverse diameter, 112

cerebral artery, middle, visible pulsation of, 104

cerebrohepatorenal syndrome. See Zellweger syndrome

cervical flexion

   abnormal, 21

   absent, 21

cervix

   dilation of, 85

   length averages, 85

   septate cervices, 537

   sonographic evaluation of, 85

Chagas disease (South American trypanosomiasis)

   brain with, parasitized microglial cells in, 617

   characteristics of, 617

   histopathologic diagnosis, of, 617

   presenting forms, 617

   skeletal muscle, 617

CHARGE polytopic field defect

   32-week fetus with, 59

   defined, 217

   heart defects in, 431

   incidence of cardiac malformations with, 433

   neonate with, 218

chest

   circumference: average ranges, 127

   circumference measurement method, 51, 127

   cystic abnormalities in, 129

   evaluating size per gestational age, 127

   sonographic evaluation of, 85

   tumors in, 129

   see also thorax

chest plate removal, 53

Chlamydia trachomatis, 603

choanal atresia, 470

choledochal cyst, 503–504

cholestasis

   assessment of, 501

   causes of, 504

   liver with: microscopic section, 196

cholesterol ester storage disease, 645

chondrocytes

   in fibrochondrogenesis, 405

   in Kniest dysplasia, 404

   in spondyloepiphyseal dysplasia congenita, 403

chondrodysplasia punctata

   cystic degeneration in cartilage: microscopic focus, 417

   facies, chipmunk-like, 417

   incidence of, 424

   rhizomelic type

      cartilage in, 417

      clinical features, 416

      defined, 415

      neonate with, 417

      pathological features, 418

      radiological features, 416

   types of, 415–420

chondrodysplasias, molecular defects in, 389

chondrodystrophies, 132

chondroectodermal dysplasia (Ellis-van Creveld syndrome)

   defined, 406–409

   incidence of cardiac malformations in, 434

   peg-shaped teeth, 407, 598

   polydactyly with third-fourth metacarpal fusion: radiograph, 407

chorangiomas, 162

chorangiosis, 160

chorioamnionitis

   acute

      effects of, 602–603

      opaque membranes in, 167

      stage three, 167

   bacterial pathogens associated with, 602

   causes of, 169

   effects of, 25, 165, 167–168

   grading, 169

   streptococcal

      endocarditis in newborn from, 603

      intrauterine pneumonia in infant from, 603

choriocarcinoma, 574

chorionic sac, 15, 21

chorionic vascular thrombosis, 169

chorionic villi, 6

chorionic villus sampling

   outlined, 304

   possible effects of, 304, 422–423

choroid plexus cysts

   aneuploidy incidence with, 106, 361–362

   as indicators, 106, 361

   as variant of choroid plexus, 361

   counseling for, 106, 362

   incidence of, 106, 361

   incidence with trisomies 13/18/21, 106

   prognosis, 106

   size and occurrence of, 361

   trisomy 18 risk with, 106, 362

choroid plexuses

   3-D view at 12 weeks, 147

   dangling, 360

   defined, 105

   early, 336

   examining, 360

   normal appearance, 106

   papilloma

      illustration, 572

      microscopic appearance, 572

      ultrasound of, 572

choroids, 105

Christ-Siemens-Touraine syndrome, 597–598

chromosomal abnormalities

   balanced translocations, parental, 183

   deletions, 180

   events presenting, 182

   femur length and, 425

   incidence of, 184

   intrauterine growth retardation and, 314–315

   inversions, 180

   isochromosomes, 180

   likelihood per maternal age, 183

   mild malformations due to, 184–185

   mortality rates of conceptuses with, 183, 185

   phenotypic expression of, 183

   rates of, 180–182

   trisomy recurrence risk, 183

   types in liveborn infants, 183

   see also specific syndromes

chromosomal syndromes, pathologic examination for, 184

chromosomes

   chromosome 7, insertional translocation of, 181

   structural abnormalities of, 181

chronic bullous disease of childhood (CBDC) (linear IgA dermatosis)

   bullous lesion: microscopic appearance, 583

   defined, 583–584

   IgA immunofluorescence, 583

   ruptured bullae, 583

chylothorax, fetal, 329–331

CI (cephalic index), 13

cilium, 484

circulation, fetal: simplified scheme, 430

cirrhosis. See liver

cisterna magna

   absent or narrow, 364

   axial image, 110

   depth of, 110–112, 364

   enlarged, 364

   sonographic evaluation of, 112, 364

cleavage, 1

cleft sternum-hemangioma association, 433

cleidocranial dysplasia, 381

cloacal exstrophy, 122, 300

cloacal membrane, agenesis of, 214

cloverleaf skull. See skull

club foot (talipes equinovarus deformity)

   in 31-week fetus: 3D ultrasound, 224

   in case of diastrophic dysplasia, 421

CMN. See congenital mesoblastic nephroma

coarctation of aorta, 452–453

cocaine use

   embryopathy from, 295

   stillbirths and, 30

coelom, extraembryonic, 146

collagen vascular disease, 137, 467

collodion baby. See ichthyosis, lamellar

coloboma of iris, 594

colon

   diameter of, 119

      normal, by gestational age, 509

   stage of visibility, 119

conceptuses, examination of, 13–16

conduction tissues examination, tissue blocks removed for, 61

congenital adrenal hyperplasia, 535, 570–571

congenital adrenal hypoplasia: types, characteristics, and diagnosis, 532

congenital anomalies and malformations

   causes by category and type, 211

   factors behind, distribution of, 212

   incidence of, 91

   kinds of, 38

   minor, 213

   sonographic detection rates, 91

   sonographically detectable, 91–92

   see also deformities

congenital cutaneous dystrophy (Rothmund-Thomson syndrome, Poikiloderma congenitale), 594

congenital cystic adenomatoid malformations (CCAM), congenital pulmonary array malformations (CPAM)

   defined, 130

   pathologic features of, 477

   sonogram of, 476

   sonographic appearance of, 130

   types

      defined, 475

      diagram of, 476

      microscopic appearance, 475

      Type 1, 130, 476

      Type 2, 476

      Type 3, 130, 476

congenital heart disease. See heart disease, congenital

congenital mesoblastic nephroma

   cystic, 565

   defined, 565–566

   flow chart, 565

   microscopic appearance, 565

   spindle cells in: electronmicrograph, 565

   tumor in newborn, 565

congenital nephrotic syndrome

   defined, 529–530

   differential diagnosis, 529

   kidney in: microscopic section, 528

   lamina densa: electronmicroscopy, 528

Conradi-Hünermann chondrodysplasia punctata, 415

copper metabolism defects, 653–655

Cornelia de Lange syndrome, 433

coronary artery, left, 453

corpus callosum, 358, 359

cortical mantle thickness, 675

Costello syndrome, 433

Cowden syndrome (multiple hamartoma syndrome), 273–274

Coxsackie viruses, 614

CR length. See crown-rump length

craniopharyngioma

   characteristics of, 574–575

   defined, 574

   microscopic appearance of, 573

craniorachischisis, 338, 340

craniosynostosis

   conditions with known causes of, 373

   in Apert syndrome, 376

   non-syndromal

      common types, 372

      deformation severity, 371–373

      general character of, 371, 373

      illustrated, 371, 372

   syndromes involving, 374

   X-ray showing sagittal, 371

Cri du chat syndrome (5p-)

   abnormalities in, 198–199

   face, 199

   incidence of, 198

   karyotype of, 198

Crouzon syndrome

   child with, 377

   craniosynostosis and markings on calvaria: radiograph, 377

   defined, 374–375

   features of, 377

crown-heel length

   8 to 26 weeks: mean values by week, 663

   crown-rump length and, 50

   measurement of, 50

crown-rump length

   8 to 26 weeks: mean values by week, 663

   average value range, 84

   crown-heel length and, 50

   defined, 13

   head circumference and, 50

   measurement, 50

   per developmental age in previable fetuses, 662

   per growth stage, 2

   predictive error, 13

cutaneous dystrophy, congenital (Rothmund-Thomson syndrome, Poikiloderma congenitale), 594

cyclopia, 191

cyllosomas, 300

cystic fibrosis

   clinical features, 481–482

   defined, 481, 505

   development of, 505–506

   diagnostic test for, 482

   effects of, 505, 555

   gastrointestinal abnormalities in, 505

   genetic basis of, 482

   incidence of, 482, 505

   lungs in, showing infected bronchi and abscesses, 482

   meconium ileus in, 499

   meconium in intestinal lumen and, 491

   pancreatic, 506

cystic hygroma

   bilateral of the neck, 202

   causes, 113–114

   characteristics of, 332–334

   chromosomal abnormalities and, 114, 331–332

   defined, 113–114, 331

   huge, in 45, X fetus, 202

   incidence of, 114, 333

   lymphatic defects outlined, 332

   mechanism of, 330

   microscopic appearance of, 332

   monosomy X fetus with, 331

   monosomy X fetus with multiloculated, 331

   nuchal thickness and, 333

   presenting appearance, 114

   trisomy 21 fetus with, 331

   with septation: axial image, 113

cystic lymphangioma of the mesentery, 551

cystic medionecrosis in Marfan syndrome, 263

cystinosis, 655

cytogenetic abnormalities and morphology, 19

cytogenetic studies, indications for, 52

cytogenetic terminology, 657–659

cytomegalovirus

   brain infected by

      cut surface of, 611

      necrosis in, 611

   diagnosis of, 611

   embryopathy from, 280–281

   in alveolar lining cells in lung, 610

   in amniotic membranes smear, 161

   in renal tubular epithelial cells, 610

   intrauterine transmission, incidence of, 610

   manifestations of, 610–611

   petechial hemorrhages in newborn from, 280, 610

   placental changes from, 611

   urinary sediment with intranuclear inclusion, 610

cytomegaly, 433

cytotrophoblast, 4

Dandy-Walker malformations

   abnormalities associated with, 112, 353, 363

   cysts, 64, 352

   defined, 112, 350, 352–353, 363

   drawing of, 352

   suggesting Meckel syndrome, 122

   ultrasound of, 352

dappled diaphyseal dysplasia, 420

DE specimens

   for Meckel syndrome rule-out, 72

   right kidney absence rule-out, 73

   typical appearance, 71

   upper limbs from, 71

defect-artifact differentiation, 69–72

deformities, 211, 223–224

dental abnormalities, 248, 386

   incisor-notching from congenital syphilis, 604

   missing teeth, 598

   peg-shaped teeth, 407, 598

   prolonged retention of deciduous teeth in cleidocranial dysplasia, 381

   stained teeth, 292

dermopathy, restrictive

   29-week fetus, 592

   defined, 593

   hyperkeratosis and parakeratosis in, 592

   keratohyalin granules: electronmicroscopy, 592

   term female infant, 592

DES (diethylstilbestrol) embryopathy, 283

Desbuquois syndrome, 418

development, human, periods in, 276

development, landmarks of early, 4

development time periods, embryonic and fetal, 660

developmental age

   criteria for, 16

   crown-rump length and, 662

   hand and foot length correlated with, 663

developmental fields

   defects

      defined, 211

      types of, 212

   defined, 207

   events in, 208

      midline, 213

   primary, 207–208

   progenitor, 208

   secondary (epimorphic), 208

developmental stages

   criteria for estimating, 17

   dating of, 2

   embryonic, 1–12

      summary 0–35 days, 3

      summary 35–60 days, 3

   see also growth

dextrocardia, 453–454

dextroposition, 453

diabetes mellitus, maternal

   abdomen: lower half missing in infant, 297

   amelia of upper limbs in infant, 296

   embryopathy from, 296, 348

   infant abnormalities and

      cardiovascular, 297

      central nervous system, 297

      miscellaneous others, 297

      summaries of, 39, 297

      types of, 296

   infant with sirenomelia, 297

   neonatal risks from, 38–40

   pancreas in infant, 507

   stillbirths and, 30

diaphragm

   defect in, 301

   eventration of, 487

   sagittal image, 122

   see also diaphragmatic hernias

diaphragmatic hernias

   abnormalities associated with, 130

   Bochdaleck, 130

   characteristic locations of, 130

   incidence of, 130, 488

   pathogenesis of, 486–488

   prognosis, 130

   through foramen of Bochdalek, 487

   types of, 486

diastrophic dysplasia

   defined, 418

   joint contractures in infant, 421

   pathological features, 420

   radiological features, 420

   scoliosis in: X-ray, 421

diethylstilbestrol (DES) embryopathy, 283

DiGeorge sequence, 220–221, 433

dilatation and evacuation at autopsy, 72–74

diphenylhydantoin, 129

diprosopus, 632

disruptions

   causes, types of, 275

   defined, 218–219, 275

   drug-related, 283–295

   examples of, 219, 277

   teratogenic, 275–278

      see also embryopathy

   TORCH infections, 279–282, 606

   vascular

      causes in twins, 301

      embryonic and fetal results of, 298

      forms of, 296–297

      mechanisms of, 298

‘double bubble sign,’ of duodenal atresia, 117

double outlet right ventricle

   15-week gestation, 446

   20-week gestation: ultrasound, 446

   defined, 445–446

Down syndrome. See trisomy 21

drinking. See alcohol use; fetal alcohol syndrome

drug abuse, stillbirths and, 30

Dubowitz syndrome, 232–234, 236

ductus arteriosus

   defined, 136, 465

   function of, 136, 429

   patent, 440–441

      diagram of blood flow in, 441

      in case of persistent fetal circulation, 441

   premature closure of, 429–430

   sonographic appearance, 465

duodenal atresia

   abnormalities associated with, 118–119

   aneuploidy and, 118, 510

   cause of, 491

   ‘double bubble’ sign: ultrasounds, 117, 492

   effects of, 118, 509–510

   incidence of, 118, 509

   thalidomide association, 118, 510

   Trisomy 13 incidence with, 510

   Trisomy 21 incidence with, 510

duodenum recannulation, 118

dup (3q) syndrome, 232

dwarfism

   bird-headed, 248

   common (achondroplasia)

      defined, 394–396

      heterozygous newborn, 397

      homozygous newborn, 397

   thanatophoric, 394

dysmorphology exam, 228

dysplasias

   defined, 211, 220, 254

   metabolic, 274

   overviews of, 221

   skeletal, 132–133, 424

dysrhythmias, fetal, 466–467

ears

   anomalies of, 385–386

   flattened, due to oligohydramnios, 386

   helix development incomplete, 386

   inner, beginning development of, 8

   large malformed, in Smith-Lemli-Opitz syndrome, 240

   lobulus missing, in trisomy 21 fetus, 386

   microtia, 386

   preauricular tag, 386

   ‘primitive’ cup-shaped, in anencephalic infant, 386

   protruding, from lack of posterior auricular muscle, 386

   rotated postaxially, low-set, 385

   trisomy 8, 197

Ebstein malformation, 446

ECHO virus (enteric cytopathogenic human orphan), 614

echocardiograms, abnormal, incidence of, 429

echocardiography, fetal

   indications for, 429

   overview, 428

ectoderm, 3, 4

ectodermal dysplasias

   defined, 597

   hidrotic form, 597

   missing and peg-shaped teeth, 598

   skin: microscopic section, 598

   X-linked recessive anhidrotic form, 597–598

ectopia cordis

   8-week embryo with, 368

   28-week fetus with: ultrasound, 457

   defined, 457

   in pentalogy of Cantrell, fetus with, 301

Ehlers-Danlos syndrome

   arthrochalasia type, 270

   classic type, 267–269

   classification of types of, 268

   clinical manifestations, 267–268

   defined, 267

   dermatosparaxis type, 270

   etiology, 267

   features needing assessment in, 268

   finger hyperextensibility, 267

   finger webbing, 267

   hypermobility type, 269

   incidence of cardiac malformations in, 434

   kyphoscoliosis type, 269–270

   Type IX, 270

   vascular type, 269

elbow regions, 12

Ellis-van Creveld syndrome. See chondroectodermal dysplasia

embryogenesis, schema of, 208

embryonal carcinoma, 555

   microscopic appearances of, 556

embryonic age, 13

embryonic development

   summary of, 661

   time periods of, 660

embryonic disc

   formation and function of, 4

   second week, bilaminar, 4

embryonic period, 13–14

embryopathy

   alcohol use, maternal, from, 285–286

   aminopterin, 290–292

   angiotensin-converting enzyme inhibitor, 286

   anticonvulsants, from, 285–286

   cocaine, 295

   cytomegaloviral, 280–281

   diabetic, 296, 348

   diethylstilbestrol, from, 283

   etretinate, 272, 287

   folate antagonist, 290–291

   hemodynamics, altered, from, 296–297

   herpes virus, from. See main entry

   hyperthermic, 278–279

   isotretinoin. See main entry

   lysergic acid diethylamide (LSD), 292, 293

   methotrexate, 96, 290–291

   phenylketonuric, 293

   prednisone, from, 294

   progestin, synthetic, 292–293

   radiation, 278

   rubella. See main entry

   sympathomimetic, 292

   tetracycline, 291–292

   thalidomide, 283–284

   toluene. See main entry

   toxoplasmosis, from, 282–283

   valproic acid, 287

   varicella/zoster. See main entry

   Vitamin A, 286–287

   Warfarin. See main entry

embryos

   17-day: ultrasound, 5

   5-week: brain: ultrasound, 338

   5th week, sonography at, 144

   41-day: microcephaly, 356

   6-week: amniotic band attached to lip, 304

   6th week features, 144

   7th week

      anencephaly, with complete rachischisis, 339

      crown-rump measurement, 16

      features of, 145

      normal: 3-D surface view, 145

   8th week

      2-D coronal scan, 146

      ectopia cordis, 368

      features of, 145–146

      median cleft lip and palate, 368

      midline facial defect, thoracic wall defect, and ectopia cordis, 368

      normal: 3-D surface view, 145, 146

   9th week: 3-D surface view, 147

   9th-10th week features, 146

   10-week: hydrocephalus in ectopic pregnancy, 350

   11th-12th week features, 146–148

   12th week, 12, 147

   aborted trisomy 13, 14, 15, 182

   artifact-defect differentiation in, 69–72

   βHCG levels and existence of, 96

   complete specimens

      cross-section, 15

      defined, 15

      macerated, 15

   dating of, 2

   development and growth summarized, 2

   development time periods of, 660

   developmental stages, 1–12

   disorganized, trisomies found in, 182

   early landmarks, 4

   fetal period, at start of, 10–11

   GD type II, 19–20

   GD type III, 21

   GD type IV, 15

   grossly abnormal, 14

   macerated, 15

   measuring, 16

   morphology by gestational age, 143–148

   non-forming, trisomies involved in, 182

   stage 10, 6

   stage 10–12, 8

   stage 11 diagram, 7

   stage 12 drawing, 8

   stage 13–15 ultrasounds, 9

   stage 13 drawing, 9

   stage 15, 9

   stage 15 drawing, 9

   stage 17 drawing, 10

   stage 18–19, 10

   stage 20, 10–11

   stage 21–22, 10–11

   stage 23 drawing, 10–11

   teratogenic vulnerability of, 277–278

   vascular disruption in, 298

   see also twins

emphysema

   congenital lobar

      causes of, 478

      defined, 478

      hyperdistended alveoli: microscopic appearance, 478

      middle lobe, 478

   pulmonary interstitial, 480

encephaloceles

   defined, 348

   disorders associated with, 348–350

   fetus with, 278

   frontal, in 12-week fetus, 349

   incidence of, 348

   occipital

      58-day fetus, 349

      22-week fetus, 349

      defined, 348

      ultrasound of, 349

   orbital, in 32-week fetus, 349

   parietal

      defined, 348

      large, 349

      ultrasound of, 349

   posterior: axial image, 107

   right ventricle communication with: injection study, 66

   sonography of, 364–365

   syndromes with, 350

encephaloclastic lesions, 297

encephalomalacia, multicystic, 297

endocardial cushion defects, 437–439

endocardial fibroelastosis, 457

   left ventricular endocardium in, 458

   microscopic section, 458

endocarditis, infective, in newborn, 603

endoderm, 3, 6

enterocolitis. See necrotizing enterocolitis

enteroviruses, 614

ependymomas, 574

epiblast, 3–4

epidermal nevus

   child with, 593

   microscopic appearance, 593

   nevus sebaceous of Jadassohn, 593

      microscopic appearance, 593

epidermolysis bullosa

   cleavage places in, illustrations of, 582

   dystrophic, microscopic appearance of, 582

   electronmicroscopy of, 582

   forms of, 581

   widespread involvement in neonate, 582

Epstein-Barr virus, 614

erythema infectiosum, 615–616

erythema toxicum neonatorum (ETN)

   defined, 587–588

   intracorneal pustule: microscopic appearance, 589

   papules and pustules of, 589

   transient neonatal pustular melanosis, 588–589

erythroblastosis fetalis

   brain: coronal section in kernicterus, 326

   hydropic, anemic infant, 42

   infant with hydrops due to, 325

   kernicterus in infant with, 42

   liver in: microscopic appearance, 326

   mechanisms of, 41

   placenta in, 325

      microscopic appearance, 325

erythroderma, desquamative (Leiner disease), 580

esophageal atresia

   abnormalities associated with, 116–117, 472, 490–491, 508

   aneuploidy associated with, 116–117

   causes of, 117, 508

   defined, 490

   features of, 490–491

   incidence of, 117, 490, 508

   indicator of, 117

   pathogenesis of, 490

   tracheoesophageal fistula and, 470–471, 491

ethmocephaly, 191

ETN. See erythema toxicum neonatorum (ETN)

etretinate embryopathy, 286–287

evisceration. See autopsy

Ewing sarcoma, 563–564

exencephaly, 339

extrahepatic biliary atresia, 501, 505

extremities

   anomalous, in Goltz syndrome, 244

   lengths calculated at close of each fetal month, 669

   lower and upper, anomalies in (Goltz syndrome), 244

   lower, missing in infant of diabetic, 297

   short, from Warfarin embryopathy, 290

   see also fingers; toes

eyebrows, hypoplastic, 292

eyelid fusion, 13

eyes

   cataracts from effect of rubella, 280

   chorioretinitis in congenital toxoplasmosis, 607

   cyclopia, 191

   early, 10

   iris

      Brushfield spots on, 187

      lesch nodules in neurofibromatosis, 255

   Kayser-Fleischer ring, 654

   lens dislocation, in Marfan syndrome, 262

   removal at autopsy, 66

   removal via posterior approach, cuts needed for, 66

   retinal dysgenesis with retinoblastoma, 193

facial anomalies

   clefts

      8-week embryo: midline facial defect, 368

      8-week embryo with median, 368

      9-week, spontaneously-aborted triploidy with bilateral cleft lip, 369

      22-week fetus: bilateral facial, with rudimentary premaxilla, 385

      24-week fetus: premaxilla, rudimentary: ultrasound, 385

      28-week stillborn: cleft soft palate, 369

      30-week fetus: lip, unilateral: 3D ultrasound, 384

      31-week fetus: lip extending into nostril: 3D ultrasound, 384

      34-week stillborn: cleft hard palate, 369

      association with aneuploidy, 115, 387

      bilateral (in Goltz syndrome), 244

      bilateral, with residual premaxilla in trisomy 21, 385

      bilateral, with rudimentary premaxilla, 383

      face and cutis aplasia (in Goltz syndrome), 385

      face, midline, with clefting of palate, in hydrolethalus, 358

      face, oblique clefting, due to swallowed amniotic bands, 385

      from amniotic bands, 305

      hydrocephalus and, 384

      incidence of, 115, 383, 386–387

      lip/palate, 368

      lip/palate after prednisone exposure, 294

      lip/palate, syndromes in which are common, 369

      palate, isolated, 368

      palate, syndromes in which are common, 370

      recurrence risk, 387

      sonography of, 386–387

      ultrasound of, 368

      variety illustrated, 368

   elfin face, in Williams syndrome, 243

   facial bone hypoplasia, 109, 363

   Fryns syndrome, 251

   holoprosencephalic defects, 347

   midfacial hypoplasia, 294

   midline defects, trisomy 13, 188, 192

   scarring from varicella, 282

   triploid fetus with, 199

FADS (fetal akinesia deformation sequence), 224–225

familial hemorrhagic telangiectasis (Osler-Weber-Rendu disease), 484–485

Fanconi anemia, 434

fatty acid oxidation defects, 649–651

faxitron

   illustration, 46

   settings and exposure times, 48

femur length, shortened, 94

femur-length/abdomen-circumference ratio, 140

femur-length/foot-length ratio, 132, 425

fertilization age criteria, 18

fertilization process, 1

fetal akinesia deformation sequence (FADS), 224–225

fetal alcohol syndrome

   abnormalities in, percent occurrence of, 287

   brain in, 286

   child with features of, 286

   features and effects, 285

   incidence, 285

   incidence of cardiac malformations in, 434

   infant with symptoms, 286

   neuropathologic lesions from, 285

   pathogenic mechanisms of, 285

   see also alcohol use

fetal anticonvulsant syndromes, 287

fetal death

   abruptio placentae and, 26

   causes, 24

   defined, 23–24

   drug abuse and, 30

   late intrauterine, incidence of, 23

   maceration after, 28

   placental abnormalities associated with, 23–26

   statistical inclusion criteria, 23

   timing, 27

   umbilical-cord-related, 23–24

   see also perinatal death; stillbirths

fetal face syndrome. See Robinow syndrome

fetal growth ratio (FGR), 317

fetal hydantoin syndrome, 287, 288

fetal hydrops

   45, X fetus with, 202

   changes occuring in, 324–325

   conditions associated with, 322–327

   frequency of causes, 324

   immunologic

      cause of, 324

      maternal-fetal blood group incompatibility mechanism in, 325

   laboratory studies for, 182–322

   lysosomal storage disorders associated with, 184–328

   minor, 321

   mortality rate from, 322

   severe, 321

   see also hydropic infants

fetal measurements, diminished, 424

fetal period, 14

fetal rhabdomyomas. See rhabdomyomas, fetal

fetomaternal hemorrhage

   diagnosis, 324

   fetus with, 29

   incidence of, 29, 324

   results of massive, 324

   size calculations, 29–30

   testing for, 29

fetus in fetu

   beating aortic vessel in: Doppler flow ultrasound, 552

   beating heart in: Doppler flow ultrasound, 552

   defined, 634

   from neonatal retroperitoneum, 552

   illustration, 634

   teratoma and, 553

   X-rays of, 552

fetus papyraceous

   compressed onto placenta, 629

   defined, 170

   findings, 623

   illustration, 170

fetuses

   58-day: occipital encephalocele, 349

   9-week

      beginning of fetal period, 10–11

      triploidy with bilateral cleft lip, 369

   10-week: sirenomelia, 215

   12-week: frontal encephalocele, 349

   13-week normal: sagittal image, 188

   14-week

      asplenia, in situ organs of, 454

      bilateral cleft lip, 190

      bronchial morphology: injection study, 47

      fingers overlapping, 194

      meningomyelocele, 342

      trisomy 21 with nuchal translucency, 188

   15-week: Batsocas-Papas syndrome, 252

   16-week

      16-week, macerated, 69

      bilateral midline cleft and premaxilla protrusion, 190

   17-week

      kidneys fused, 515

      macerated, 70

      renal agenesis, 516

   18-week

      anencephaly, with complete rachischisis, 339

      anteroposterior and lateral views, 47

      hypoplastic left heart: ultrasound, 452

   19-week

      cerebellum: axial image, 111

      cervical length: sagittal image, 87

      cisterna magna: axial image, 111

      kidneys: axial image, 86

      lumbosacral spine: sagittal image, 85

      nuchal area: axial image, 111

      parietal encephalocele, 66

      profile: sagittal image, 108

      urinary bladder: axial image, 85

   20-week

      cervix showing funneling: sagittal image, 87

      hypoplastic left heart: ultrasound, 452

      hypoplastic right ventricle: ultrasound with color Doppler, 449

      ruptured meningomyelocele, 342

      twins: ultrasound, 625

   21-week macerated, 70

   22-week

      facial clefting, bilateral, with rudimentary premaxilla, 385

      hypoplastic right ventricle, and PA stenosis: ultrasound, 449

      occipital encephalocele, 349

      right ventricle: ultrasound, 449

      Seckel syndrome, 247

      trisomy 18 with micrognathia, 194

      trisomy 21: atrioventricular septal defect: ultrasound, 439

      trisomy 21 profile, 187

   23-week

      septum secundum: ultrasound, 438

      tetralogy of Fallot: ultrasounds, 447

      ventricular septal defect: ultrasound, 440

   24-week

      4-chamber heart: axial image, 120

      abdominal circumference: axial image, 84

      cord insertion into abdomen: axial image, 86

      femur length: axial image, 84

      head and spine: coronal image, 85

      premaxilla, rudimentary: ultrasound, 385

   25-week: intracerebral hemorrhage, 33

   26-week

      cloverleaf skull after scalp reflection, 377

      male genitalia: 3D ultrasound, 541

   27-week

      anencephaly, with ‘Berét’ of brain tissue, 340

      urethral agenesis, 519

   28-week

      cranio-occipital rachischisis, 340

      echogenic bowel: ultrasound, 499

      ectopia cordis: ultrasound, 457

      right atrium, dilated: ultrasound, 432

      stillborn: cleft soft palate, 369

      twins: 3D-ultrasound, 625

   29-week: restrictive dermopathy, 592

   30-week

      cleft lip, unilateral: 3D ultrasound, 384

      foramen ovale, premature closure of, 430

      hydrocephalus and micropolygyria, 351

      sutures, normal, and anterior fontanelle: 3D ultrasound, 372

   31-week

      ascites: ultrasound, 328

      BPD and head circumference: axial image, 84

      cleft lip extending into nostril: 3D ultrasound, 384

      club foot: 3D ultrasound, 224

   32-week

      arthrogryposis, 224

      bladder and ureters, dilated, 524

      external genitalia in CHARGE association, 59

      Fryns syndrome, 251

      orbital encephalocele, 349

      trisomy 18, 194

   33-week: left ventricular outflow tract: ultrasound, 440

   34-week

      Potter facies from renal agenesis, 516

      stillborn: cleft hard palate, 369

   abdominal body wall defect, 69, 300

   aborted, with herpes simplex, 612

   amniotic bands attached to, 301, 303

   anencephalic: sagittal image, 107

   artifact-defect differentiation in, 69–72

   artifactual abdominal defect, having, 69, 70

   cyllosomas, 300

   DE specimens. See main entry

   development time periods of, 660

   dicephalus dibrachus dipus (2 heads, 2 arms, 2 legs), 632

   growth of, serial sonographic assessments of, 80–81

   hydrocephalic, systemic anomalies in, 351

   hydropic, with anemia due to parvovirus, 615

   karyotype 45, X, 202

   monosomy X

      with cystic hygromas, 331

      with multiloculated cystic hygromas, 331

   Pentalogy of Cantrell, 301

   previable

      crown-rump length per developmental age in, 662

      hand and foot length per developmental age in, 663

   triploid, 199, 200

   trisomy 21, with cystic hygromas, 331

   umbilical cord, short: ultrasound, 307

   vascular disruption in, 298

   well-being of, sonographic assessments, 81–83

   see also twins

fibroblastoma, giant cell: microscopic appearance, 559

fibrochondrogenesis

   chondrocytes: high-power view, 405

   described, 402

   newborn with, 405

   newborn with: radiograph, 405

   resting cartilage, 405

fibromatosis

   defined, 556

   infantile digital, 556–557

      fibroma, 558

       microscopic appearance, 558

fibrosarcoma, congenital (infantile)

   defined, 559

   excised tumor, cut surface of, 558

   lower extremity, 558

   microscopic appearance, 558

fibrous hamartoma of infancy, 557–559

‘fifth disease,’ 615–616

finger rays, 10

fingers

   amputated and constricted by amniotic bands, 306

   bulbous fingertips, in Rubinstein-Taybi syndrome, 239

   camptodactyly, in Seckel syndrome: ultrasound, 247

   early, 12

   hyperextensibility of, in Ehlers-Danlos syndrome, 267

   middle, hypertrophy of, in neurofibromatosis, 255

   overgrowth of, in Proteus syndrome, 264

   overlapping (14-week fetus), 194, 195

   syndactyly of second and third, 379

   transverse reduction defects, 307

   webbing of, in Ehlers-Danlos syndrome, 267

   see also polydactyly

5p- syndrome. See Cri du chat syndrome (5p-)

flow velocity ratios, 319

fluorescent in situ hybridization technology, 181

focal dermal hypoplasia (Goltz syndrome)

   aplasia of scalp, 244

   bilateral facial clefts, 244

   characteristics of, 244–245

   child with lesions of aplasia and hypoplasia of the skin, 594

   coloboma of iris, 594

   defined, 594–595

   extremity anomalies, 244

   rib and vertebral anomalies: X-ray, 245

   upper limb defects: X-ray, 245

folate antagonist embryopathy, 290–291

folic acid

   antagonists of, 291

   deficiency prevention, 290

   deficiency’s effects, 290

   developmental processes requiring, 290

   food sources of, 291

   preconception supplementation, 290, 291

foot

   Apert syndrome, 376

   club foot in 31-week fetus: 3D ultrasound, 224

   development of, 16

   edematous, monosomy X, 202

   length

      by week (8 to 26 weeks): mean values, 663

      measurement of, 50

      per developmental age in previable fetuses, 663

      utility of, 50

   monosomy X, typical appearance, 331

   plantar furrows and malpositioned toes, trisomy 8, 197

   Proteus syndrome: dorsal surface, 264

   Proteus syndrome: sole, 264

   rocker-bottom, trisomy 18, 194, 195

   trisomy 21, 187

   see also toes; polydactyly

foot plate, 10

foramen of Morgagni, 487

foramen ovale, 429

   premature closure of, 429

      in 30-week fetus, 430

forceps delivery, skull fracture from, 41

frontometaphyseal dysplasia, 434

Fryns (anophthalmia-plus) syndrome, 249–251

fungal infections, 620

funisitis, 176

galactosemia, 645–646

ß-galactosidase, deficient activity of, 644

gallbladder

   absence of, external appearance, 503

   choledochal cyst of, 503

   developmental defects of, 502–503

   left-sided, in situs inversus, 53

ganglioneuroblastoma from mediastinum: microscopic appearance, 561

gangliosidoses, 644

gangrene, neonatal, 305–307

gastrointestinal anomaly combinations and hereditary conditions, 122

gastroschisis

   abnormalities associated with, 300, 510–511

   apparent cause, 119, 300

   axial image, 119

   chromosomal abnormalities and, 511

   defects in, 120

   defined, 119, 299–300, 497

   evaluation for, 120

   illustrated, 498

   incidence of, 119, 510

   location of, 510

   neonate with, 300

   ultrasound of, 497

gastrulation, 25, 220–222

Gaucher disease

   defined, 640–641

   histiocytes in bone marrow aspiration, 643

   typical cells, 643

genitalia

   12th week, 12

   26-week male: 3D ultrasound, 541

   ambiguous

      evaluation of neonate with, 531

      external, syndromes with, 534

      incidence of, 531

      infant with congenital adrenal hyperplasia, 530

      male, in Smith-Lemli-Opitz syndrome, 241

   differentiation and morphogenesis flow sheet, 542

   differentiation disorders schematic, 543

   external

      32-week fetus with CHARGE association, 59

      abnormal, 531

      discordance between karyotype and, 535

      incision for removal with organ block, 59

      normal development, 540

      removal at autopsy, 59–60

      syndromes with ambiguous, 534

   gonadal ridge, bipotential, 535

   hydroceles, bilateral: ultrasound, 539

   hypospadias, 531

   internal, 73, 531–539

      double organs, 535

   intersex abnormalities, definitions of, 537

   normal male and female, 16 weeks: ultrasound, 541

   ovotestis: microscopic section, 537

   uterine fusion abnormalities, 535

   vagina, atresia of, 535

   see also cervix; gonads; ovaries; testes; uterus

genito-urinary anomalies and renal dysplasia, 519

germ layers, 3–6

gestational age

   defined, 13

   embryonic morphology by, 143–148

   estimating, 310

   estimations of, 139, 316

   estimator of, crown-rump length as, 13, 84, 139

   growth retardation and, 311

   measurements used for estimating, 310

   per growth stage, 2

   relationship between biparietal diameter and, 675

   ultrasound measurements, 2, 88–89

gestational sac

   6-week, 144

   abnormal characteristics, 98

   βHCG levels and, 96–97

   empty, 13, 15–16, 19

   healthy, 97

   sonographic view of, 143–144

   villi in, 14–15

Glasgow chondrodysplasia, 420

glomerulocystic kidney disease, 524–525

ß-glucocerebrosidase deficiency, 640–641

glucocorticoid hormone biosynthesis and action, gene/gene products involved in, 536

glycogen storage diseases

   summarized, 647

   type I (von Gierke disease), 646

   type II (Pompe disease), 435, 646–647

goiter, 114, 576

Goldenhar syndrome (oculoauriculovertebral dysplasia)

   defined, 378–379

   features of, 380

   incidence of cardiac malformations in, 434

   infant with, 379

   pathogenesis of, 380

Goltz syndrome. See focal dermal hypoplasia

gonadal ridge, bipotential, 535

gonadoblastoma, 555–556

gonads

   aneuploidal effects on, 185

   dysgenesis of, types of, 538

   embryonic development of, 530–531

   removal at autopsy, 60

Gorlin syndrome (basal cell carcinoma syndrome)

   clefting of face and cutis aplasia in, 385

   clinical manifestations of, 267

   cranium showing calcification of falx cerebri: X-ray, 266

   defined, 266–267

granuloma

   eosinophilic. See Langerhans cell histocytosis

   pyogenic, 548

great vessels of the heart, 53, 121

   see also transposition of great vessels

Greenberg dysplasia, 420

growth

   assessing without gestational age, 139–140

   cellular activity phases during, 138

   disturbance of, 185

   landmarks of early, 4

   markers for, types of, 317

   phases of, 311

   restricted, early versus later, 138

   stages of, 2

   time periods, embryonic and fetal, 660

   see also developmental stages; intrauterine growth retardation (IUGR)

growth disorganization

   GD type II, 19–20

   GD type III, 20–21

   GD type IV, 15, 20

   types of, 16–20

   without chromosomal abnormalities, 20

growth plate

   defined, 391

   in asphyxiating thoracic dysplasia, type I, 406

   short but histologically normal, 397

hamartomas

   fibrous, of infancy, 557–559

   mesenchymal

      defined, 567

      in newborn, gross appearance, 568

      incidence of, 567

      microscopic appearance, 568

      presentation findings, 567

   microscopic appearance, 259

hand plates, 10

Hand-Schüller-Christian disease. See Langerhans cell histocytosis

hands

   14 week: 3-D view, 148

   amputations from amniotic bands on, 306

   brachysyndactyly in, 288

   development of, 16

   edematous, monosomy X, 202

   left, second digit amputation, 71

   left, with palmar crease abnormality, 71

   length per developmental age in previable fetuses, 663

   mitten: Apert syndrome, 376

   monosomy X, typical appearance, 331

   right, third digit partial amputation, 71

   trisomy 21 hand: X-ray, 187

   trisomy 8, 197

   see also fingers; polydactyly

Hanhart anomaly, 227, 229

Hanhart-Möbius complex, 227

head

   30-week fetus: sutures, normal, and anterior fontanelle: 3D ultrasound, 372

   amniotic bands attached to, 305

   Apert syndrome: X-ray, 376

   axial view, 104

   basic evaluation of, 104

   bone-absent, in hypophosphatasia: radiograph, 414

   cebocephaly, 191, 344

   circumference. See head circumference

   differential diagnostics of, 104–113

   dimensions per fetal month, 669

   distorted, 21

   double-faced (diprosopus), 632

   early, 12

   ethmocephaly, 191

   posterior, 123

   posterior fossa view of, 110

   shape, altered, 85

   thoracic/head-circumference ratio, 127

head circumference

   abnormalities, 109–110

   crown-rump length and, 50

   head-circumference/abdominal- circumference ratio, 140

   head-circumference/femur-length ratio, 109–110, 132, 425

   measurement method for, 51

heart

   4-chamber sonographic view

      24-week, 120

      characteristics of, 128

      features of, 464

      obtaining, 128, 134

      utility of, 128

   5-chamber sonographic view

      defined, 134–135

      features of, 464

   5-chamber in thoracopagus conjoined twins, 631

   cardiac axis

      abnormal, 127, 134

      normal, 134

      to the right, 134

   conduction tissues examination, tissue blocks removed for, 61

   coronary sinus, large, with persistent left SVC, 456

   ‘crossing’ views of pulmonary artery and aorta, 464

   dissection and assessment of, 57–58

   dysrhythmias, 136–137

      pulse Doppler for, 66

   epicardium, rhabdomyomas involving, 259

   fetal activity, 13

   fetal blood flow around, 429

   great vessels, 53, 121

   hypoplastic left, 73

   in situ examination at autopsy, 54–58

   interventricular septum, 134–135

   left atrium morphology, 56

   left coronary artery, anomalous origin of, 453

   left ventricle

      hypoplastic, 73

       ultrasound with color Doppler, 439

      morphology of, 59

      non-compaction of, 459

      with endocardial fibroelastosis, 452

   left ventricular outflow view, 135, 464

   lesions unidentifiable prenatally, 429

   multivalvular, trisomy 18, 195

   opening in situ, 57

   perfusion-fixation at autopsy, 68

   position abnormalities, 453–456

   right atrium

      dilated, in 28-week fetus: ultrasound, 432

      morphology of, 55

   right ventricle. See main entry

   right ventricular outflow view, 464

   rubella, malformations in congenital, 609

   short axis great vessel view, 135, 464

   situs abnormalities, 453–456

   sonographic evaluation of, 127–128, 133–137, 460–467

   tumors of, 570

   valves in mucolipidosis II, 641

   windowing at autopsy, 68–69

   see also cardiovascular system; heart disease, congenital

heart disease, congenital

   aneuploidy and, 129, 466

   atrioventricular septal defect, prednisone and, 294

   chromosomal abnormalities incidence with, 466

   correction of, operative procedures for, 461

   disorders associated with, 129

   incidence of, 128–129

      in multiple-malformation syndromes, 433

   maternal illnesses role in, 128–129

   medication and substance exposure associated with, 129

   risk factors for, 465–466

   risk of, disorders associated with, 128

   screening tool for, 84

   tachyarrhythmias and, 129

   see also tetralogy of Fallot

heart tube, 6

heavy metals, 296, 297

hemachromatosis, neonatal, 652–653

hemangioblastomas, 573

   cerebellar tumor: microscopic appearance, 573

hemangiomas

   benign, 548

   capillary, 548

      microscopic appearance of, 547

   cavernous, 548

      microscopic appearance of, 547

   cellular, 548

   cervical, 114–115

   complications possible with, 576

   hepatic, 566–567

      in newborn, 567

   pyogenic granuloma, 548

   shoulder and neck in newborn, 547

   sonographic appearance of, 576

hematomas

   retroplacental, 156

   umbilical cord, 174

hemiazygos vein, large, 55

hemolytic anemic, immune, 40

hemorrhage

   extraventricular, 33

   intracerebral, 33

   intraventricular, 33

   lateral ventricular: CT scan, 33

   petechial, 30–610

   pulmonary, 484–485

   retroplacental, 26, 155, 156

   subgaleal, 41

   see also fetomaternal hemorrhage

hepatitis viruses, 614–615

hepatoblastoma

   characteristics of, 569

   clinical conditions associated with, 568

   conditions associated with, 567–569

   cut surface from, 568

   fetal pattern in: microscopic appearance, 568

   incidence of, 567

hepatomegaly, 122, 280

hepatosplenomegaly, 280

hermaphroditism

   pseudohermaphroditism, female, 536

   types of, 537

hernias. See diaphragmatic hernias

heroin, clinical manifestations of exposure to, 295

herpes viruses

   congenital

      hepatocytes, intranuclear inclusions in, 612

      intraepidermal vesicle with necrotic keratinocytes, 612

      liver in, 611

      newborn with, 611

      skin section in, 612

   simplex

      abortus with, 612

      congenital cause, 590

      illustration, 281

      incidence of, 590

      skin: microscopic appearance, 591

      type 2, 281–282, 611–612

      vesicular skin lesions, 591

   types of, 609–610

heterotopia of pancreas, 506

HHH disease, 648

H.I.E. (hypoxic ischemic encephalopathy), 36–37

Hirschsprung disease (aganglionic megacolon), 500

   distended bowel loops in: X-ray, 500

   myenteric plexus in, 502

histiocytoid cardiomyopathy, 457–458

histiocytosis X. See Langerhans cell histocytosis

HIV (human immunodeficiency virus), 616–617

   lung in newborn with: microscopic section, 616

holoacrania, 338

holoprosencephaly

   abnormalities associated with, 191–345, 362

   alcohol consumption by mother and, 348

   alobar, 182, 193, 213, 345

   aneuploidy incidence with, 109, 362–363

   brain in alobar, 193, 213

   defined, 362, 383

   development field, 346

   development of brain with, 344

   disorders encompassed by, 108–109

   disorders present with, 362

   etiology of, 348

   facial defects in, 347

   facial indicator of, 213

   forms of, 345–348

   genetics, 191–345

   incidence of

      general, 343–345, 362

      in cases of diabetic mothers, 109, 348

      in trisomy 13 and 18, 109, 362–363

   lobar, 193, 345

   monogenic syndromes with, 346

   pathogenesis of, 343, 348

   prognosis, 109, 362

   recurrence rate, 363

   spectrum cartoon, 191

   spectrum drawing of, 344

   spectrum in trisomy 13, 193

   teratogenic causes, 348

   types of, 362

Holt-Oram syndrome

   cardiovascular defects and, 434

   characteristic findings, 243–244

   DE specimen with, 72

   radial aplasia in, 243

Holzgreve syndrome, 434

HOMAGE syndrome, 434

homocystinuria, 637, 638

human development, periods in, 276

human immunodeficiency virus (HIV), 616–617

   microscopic section of newborn lung with, 616

   pneumocystis carinii in lung, 616

humerus

   19-week, 122

   as chromosomal aberration indicator, 425

      shortening in trisomy 21, 132

Hurler disease

   characteristics, 639

   liver: microscopic section, 640

   phenotypic appearance, 640

hyaline membrane disease, 482–484

   development outlined, 483

   gross appearance, 482

   microscopic appearance, 482

   pathogenesis of, 482

   progression to bronchopulmonary dysplasia, 483

hydantoin embryopathy

   hands of infant with, 288

   incidence of cardiac malformations in, 434

hydantoin use, 466

hydatidiform mole

   complete

      findings with, 176–177

      illustration, 176

      incidence of, 176

      ultrasound of, 176

   complete/partial differential features, 177

   partial, 177–178, 202

      microscopic appearance of, 178

      triploidy placenta with, 200

hydranencephaly, 282, 297

hydroceles, bilateral: ultrasound, 539

hydrocephalus

   10-week ruptured ectopic pregnancy, 350

   30-week, X-linked fetus, with micropolygyria, 351

   cause, usual, 350

   defined, 350, 379–381

   disorders associated with, 351

   ex vacuo, 350

   extreme, in infant, 381

   facial clefts and, 384

   incidence of, 350

   mild: sagittal image, 105

   systemic anomalies in 30 fetuses with, 351

   time of development, 350–351

hydrocephaly-VACTERL syndrome, 434

hydrolethalus syndrome

   abnormalities included in, 245

   appearance of newborn with, 358

   base of skull with keyhole foramen magnum, 358

   defined, 357

   illustration, 245

   keyhole foramen magnum in, 246

   midline facial cleft with clefting of palate, 358

hydronephrosis. See kidneys

hydropic infants

   anemic, 42

   due to erythroblastosis fetalis, 325

   laboratory studies in, 184–322

   see also fetal hydrops

hydrops fetalis. See fetal hydrops

hydrothorax, fetal

   bilateral: ultrasound, 330

   cardiopulmonary hypoplasia due to bilateral, 330

   causes of, 329

hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, 648

hypertelorism

   in Carpenter syndrome, 378

   in Cri du chat syndrome, 199

   in hydantoin syndrome, 288

   in Opitz syndrome, 236

   in Robinow syndrome, 236

   in Saethre-Chotzen syndrome, 379

   in triploid fetus, 199

   in trisomy 13, 188

hypertensive disease, 30

hyperthermia, 278–279

hypoblast, 4

hypoglycemic neonate, 40

hypophosphatasia (congenital lethal type)

   clinical features of, 414–415

   defined, 413

   head: radiograph, 414

   incidence of, 424

   metaphysis: photomicrograph, 414

   neonate with, 414

   pathological features, 415

   pathology finding, 415

   physeal growth zone in, 415

   radiology findings, 415

   scalp, reflected, 414

   skull: ultrasound, 414

   X-ray features, 415

hypoplastic left heart complex

   18-week gestation: ultrasound, 452

   20-week gestation: ultrasound, 452

   diagram of blood flow in, 452

   forms of, 451–452

   great vessels with, typical appearance, 452

   left ventricle with endocardial fibroelastosis, 452

hypospadias, 237, 531

hypotelorism, 191, 344

hypotonia in Zellweger syndrome infant, 249

hypoxemia, chronic, 312

hypoxic ischemic encephalopathy (H.I.E.), 36–37

I-cell disease. See mucolipidosis II

IBIDS (trichothiodystrophy), 586–587

ichthyosis

   defined, 584–586

   harlequin baby, 585

   lamellar (collodion baby)

      defined, 585

      hyperkeratotic skin in: microscopic appearance, 585

      illustrated, 585

   major forms of, 586

   simplex (vulgaris), 585

   X-linked, 585–586

ileum, stenosis of, 492

immotile cilia syndrome, 484

immune hemolytic anemia, 40, 323

impetigo, 588–590

implantation

   failure, 14

   processes included in, 3–4

   timing of, 2

incontinentia pigmenti, 584

infantile digital fibromatosis, 556–557

infants

   achondroplastic (common dwarfism)

      heterozygous newborn, 397

      homozygous newborn, 397

   asphyxiating thoracic dysplasia in neonate, 406

   campomelic dysplasia in, 419

   chondrodysplasia punctata, rhizomelic-type neonate, 417

   fibrochondrogenesis in newborn, 405

   growth-retarded, morbidity in, 311

   hydropic anemic, 42

   hydropic, laboratory studies in, 184–322

   hyperthermic embryopathy, 278

   hypoglycemic, of diabetic mother, 40

   hypophosphatasia in neonate, 414

   Kniest dysplasia in, 404

   metatrophic dysplasia in newborn, 398

   osteogenesis imperfecta type II in neonate, 412

   osteogenesis imperfecta type III in neonate, 412

   polycystic kidneys, infantile recessive, in newborn, 518

   postmature, 32

   Potter facies from renal agenesis, 516

   short-rib polydactyly dysplasia in newborn, 409

   short umbilical cord on, 307

   spondyloepiphyseal dysplasia congenita in, 403

   thanatophoric dysplasia in newborn, 395

   varicella embryopathy, 282

   very low birth weight, 33

infections

   bacterial, 601–607

   congenital

      fungi, parasites, and protozoa associated with, 620

      signs, symptoms, and findings associated with, 602

      viral agents in, 608

   fetal, routes of, 168, 601–602

   fungal, 620

   neonatal, 38

   TORCH, 279–282, 606

   viral, 608–617

   see also specific infections and organisms

inferior vena cava, azygos continuation of, 455

inflammation, decidual, 165

influenza virus, 614

iniencephaly, 340–341

inner cell mass, 2

innominate vein, unidentified, 54

insulin growth factor, 310

intermediate atrioventricular septal defect, 438

interpupillary distances, 50

intersex abnormalities, definitions of, 537

intervillous fibrin deposition, 162–163

intervillous space

   abnormal cells in, 163–164

   immunofluorescent stain for immunoglobulin in, 163

   sickled red blood cells in, 164

intervillous thrombus, 157

intestinal disorders

   abnormalities from cystic fibrosis, 505

   anorectal malformations, 497–499

   anus, imperforate, types of, 498

   atresias

      abnormalities associated with, 492

      ileal, 491

      incidence of, 491

      jejunal, 491

      location most likely, 491

      multiple bowel, 491

      pyloroduodenal, 491

      types of, 491–493

      see also duodenal atresia

   dilation, 509–510

   duplications, 492–494

   ileum, stenosis of, 492

   malrotation, 494–495

      in situs inversus, 53

   meconium ileus, 499

   rubella, malformations from congenital, 609

   short bowel syndrome, 496

   small intestine affected by cystic fibrosis, 507

   twins, conjoined: barium injection, 631

   vitellointestinal duct remnants, 495–496

      types of, 495

   see also Hirschsprung disease

intrauterine asphyxia

   acute, 30

   conditions associated with, 30

   pathological changes over time from, 31

intrauterine growth retardation (IUGR)

   asymmetric

      defined, 312

      hypoxemia-caused, 312

      mechanism of, 311

      symmetric versus, 311

   causes summarized, 313

   chromosomal factors in, 314–315

   degrees of, and gestational age, 311

   incidence in multiple pregnancy/stillbirth, 29

   indicator of, 311

   indices of, 317–318

   infections associated with, 316

   likelihood of identification, 183

   markers for, sonographic, 318–319

   maternal age and aneuploidy in, 315

   multiple gestation and risk of, 316

   potential causes of, 312–314, 316

   risks associated with, 137

   sonographic evaluation for, 137–140

   symmetric

      asymmetric versus, 311

      defined, 312

      normal 26-week fetus versus, 312

   types of, 311–312

interventricular septum, 134–135

iron storage disease, 652–653

islet cell adenoma, 570

isochromosomes, 180

isotretinoin embryopathy

   incidence per embryonic age, 287

   manifestations of, 287, 289

   outlined, 287

   use rate with risk, 286–287

IUGR. See intrauterine growth retardation (IUGR)

Ivemark syndrome, 434

jaundice, assessment of, 52

jaw, prognathism of lower, 71

jejunal atresia, 120, 491

Jeune syndrome. See asphyxiating thoracic dysplasia

juvenile granulosa cell tumor

   defined, 555

   microscopic appearance, 557

   photograph, 557

   ultrasound, 557

kala-azar (visceral leishmaniasis), 618

Kartagener syndrome, 434, 484

karyotype 45 X fetus, 202

karyotype 47 XXY, 203

karyotype 69 XYY, 199

karyotypic evaluation

   benefit of, 93

   indicator for, 112

   using chorionic villus sampling, 84

Kayser-Fleischer ring, 654

kernicterus, 42, 326

kidneys

   abnormalities in

      incidence of, 123–124, 539

      syndromes often present with, 125

   adysplasia of, hereditary

      defined, 520

      illustration, 520

      microscopic section, 516

   agenesis of

      17-week fetus, 516

      34-week gestation infant with Potter facies, 516

      anomalies associated with, 515

      cause of, 514

      defined, 513

      diagnosing, 126–127

      incidence of, 514

      sequence of events in, 516

      unilateral, conditions associated with, 514

   angiomyolipomas in tuberous sclerosis, 259

   aplasia of

      bilateral, 516

      defined, 515

   syndromes associated with, 514

   congenital nephrotic syndrome

      defined, 529–530

      differential diagnosis, 529

      kidney in: microscopic section, 528

      lamina densa: electronmicroscopy, 528

   cystic

      in Smith-Lemli-Opitz syndrome, 241

      in Von Hippel-Lindau disease, 260, 529

      in Zellweger syndrome, 250, 653

   cystic disease, hepatic fibrosis and, 518

   cystic diseases of, classification of, 515

   cystic tumors, 530

   cysts associated with multiple malformation syndromes, 524

   cytomegalovirus in tubular epithelial cells, 610

   dilation, abnormal, 122–123

   dimensions, 124

      by gestational age, 539

   dysplasia of

      characteristics of, 518–520

      diffuse, syndromes with, 520

      genito-urinary anomalies and, 519

      large kidney in Smith-Lemli-Opitz syndrome, 527

      multicystic, 520

      variants of, 520

   ectopic, 513

   function of, assessing, 124–125

      antenatal, 541

   fusion of, 515

   glomerulocystic disease, 524–525

   glomerulocystic, types of, 525

   hereditary disorders affecting, 125

   horseshoe

      defined, 513

      illustrations, 195, 515

      types of, 514

   hydronephrosis

      causes, 521

      congenital obstructive, microscopic appearance of, 521

      defined, 520

      incidence with other disorders, 522

      possible predictor of, 125

      sagittal image, 123

      syndromes including, 521–522

      with dilated ureters, 521

      with huge, distended ureters, 523

      with pelvic distension, 521

   Meckel syndrome and

      defined, 524–525

      large kidney of newborn with variable-sized cysts

       cut surface, 526

       large cysts: ultrasound, 526

       microscopic appearance, 526

   medullary cyst disease, 524

   medullary cystic, 524–525

   medullary cysts, 524

kidneys

   medullary sponge, 524

   multicystic disease

      causes of, 126

      characteristics of, 126

      gross appearance, 519

      incidence of, 126

      micromulticystic kidney in trisomy 13, 521

      microscopic appearance, 519

      multicystic dysplastic kidney (MCDK), 126

      ultrasound of kidney, 519

      with atretic ureter, 520

   nephroblastomatosis, 566

   normal sonographic appearance of, 124

   pelvic dilation, 521, 540–541

   polycystic disease

      adult

       cysts in, 518

       defined, 125–126, 518, 541

       diagnosing, 518

       gene location on chromosome 16, 518

       incidence of, 518

       kidney in adult, 519

       variably-sized cysts in newborn, 519

      dominant, genetics of, 518

      infantile recessive

       common presentations, 126

       cut surface, 517

       defined, 125–126, 515–518

       external appearance, 517

       hypoplastic lungs in case of, 474

       liver in case of, 517

       microscopic appearance, 517

       newborn infant with, 518

       outline of, 516

       sonographic evaluation of, 542–544

       ultrasound of, 517

   postnatal compromise of, frequency of, 539

   right, absence rule-out DE specimen, 73

   sizes during development, 124

   sonographic evaluation of, 85, 539–545

   trisomy 13, 190

   tubular dysgenesis, congenital, 528

   tumors, classification of fetal and newborn, 566

   see also specific disorders, and renal and nephr- entries

kleeblattschädel. See skull, cloverleaf

Kleihauer-Betke test, 29–30

Klinefelter syndrome

   abnormality associated with, 185

   defined, 203–204

   testes in, 203, 204

Klippel-Feil syndrome, 434

Kniest dysplasia

   cartilage fibrils: scanning electronmicrograph, 404

   cartilage in, 404

   chondrocytes in, 404

   defined, 400

   enlarged metaphyses of limb bones: radiograph, 404

   severe form

      in infant, 404

      outlined, 404

kyphomelic dysplasia, 418

Langerhans cell histocytosis

   Birbeck bodies: electronmicrograph, 599

   defined, 598–599

   infant with generalized papular rash, 599

   infiltrate of histocytes and eosinophils: microscopic section, 599

   skull showing punched-out lesions: X-ray, 599

large for gestational age (LGA), 13

Larsen syndrome, 418, 434

laryngeal cleft, 470

laryngeal papillomas, 488

laryngeal stenosis, 470, 471

laryngotracheal papillomatosis, 488

larynx, hypoplastic, with laryngeal cleft, 471

Laurence-Moon-Bardet-Biedl syndrome, 434

Lazjuk syndrome, 434

lecithin/sphingomyelin ratio, 470

left atrium morphology, 56

left ventricle

   hypoplastic: ultrasound with color Doppler, 439

   morphology of, 59

   non-compaction of, 459

   with endocardial fibroelastosis, 452

leg, constriction from amniotic bands, 306

Leiner disease (desquamative erythroderma), 580

leiomyomatosis, lung, in tuberous sclerosis, 260

lens placodes, 10

LEOPARD syndrome, 596

leprechaunism, 242–243

Lesch-Nyhan syndrome, 654

lesions filled with macerated brain, 70

lethal brittle bone syndrome, 420

Letterer-Siwe. See Langerhans cell histocytosis

leukodystrophy, metachromatic, 644

leukomalacia

   perivascular (PVL), 37

   periventricular, 36

LGA (large for gestational age), 13

limb buds, 145

limb-reduction defects. See limbs

limb-shortening, syndromes associated with, 131–132, 423–424

limb/body wall defects

   defined, 298–299

   diagnosis of, 299

   etiology of, 299

   gastroschisis versus, 299

   groups of, 299

   incidence of internal anomalies with, 299–300

limbs

   amelia of upper (maternal diabetes), 296

   defects from maternal use of sympathomimetic drugs, 293

   femora, bulbous ends of, 398

   femur, distal, in Zellweger syndrome: X-ray, 249

   humerus and ulnar fused with bony spur: X-ray, 293

   leg, constriction from amniotic bands, 306

   reduction defects

      after maternal LSD use, 292

      defined, 298

      transverse, 423

      types of, 422–423

   short, malformed, in Roberts syndrome, 238

   sonography of, 131

   upper, from DE specimen, 71

linear sebaceous nevus syndrome, 594

lipoblastoma, 559–560

lips

   bilateral cleft, 190, 191, 369

   cleft

      bilateral, 383

      from amniotic bands, 305

      in infant of diabetic mother, 296

      incidence by race, 367

      incidence of variations in, 367–368

      pathology, 368

      unilateral, 368

   coronal image, 108

   everted, in Williams syndrome, 243

   mucosal neuromas of, in MEN type 2B, 273

   premaxilla, protrusion of, 190

   premaxillary aplasia, 191

   upper, 10, 286

lissencephaly

   malformation syndromes associated with, 354

   partial, 286

   Type I, 354

   Type II (Walker-Warburg syndrome), 354–355

   Type III, 355

   X-linked, 355

   Zellweger syndrome, 250

Listeria coccobacilli, 160

Listeria monocytogenes, 603

listeriosis, 603

lithium use, 129, 466

livebirth defined, 32

liver

   bile ducts

      dilatation of, 503

      dilated serpiginous in fibrotic stroma, 517

      dissection of, 503

      extrahepatic, atresia of, 501, 505

      intrahepatic, paucity of, 504

   cirrhosis

      alpha1 antitrypsin, 502

      Wilson disease, 654

      Zellweger syndrome, 250

   cut surface: case of adult polycystic kidneys, 519

   cut surface, in Zellweger syndrome, 250

   cystic spaces: case of infantile polycystic kidneys, 517

   cysts, multiple, 503

   developmental defects, 500

   enlarged, 122

   erythroblastosis fetalis: microscopic appearance, 326

   fibrosis, cystic disease and, 518

   hemangioma of, 566–567

      in newborn, 567

   hematocytes

      alpha1 antitrypsin globules in, 502

      giant cell transformation of, 196

   hepatosplenomegaly, 280

   herpes, with multiple abscesses, 611

   intrauterine disease of, 652–653

   lobulation, abnormal, in trisomy 18, 502

   metabolic disorders, special investigations in, 501

   midline, in 14-week asplenic fetus, 454

   mucopolysaccharidosis I: microscopic section, 640

   neuroblastoma in stage IV-S, 562

   staphylococcal septicemic abscesses of, 602

   symmetrical, in situs inversus, 53

   trisomy 18: microscopic section, 196

   tuberculosis, congenital, with, 606

   tumors of, 566–569

   twin-to-twin transfusion recipient: ultrasound, 626

   Zellweger syndrome manifestations in, 250, 653

   see also specific disorders, and hepatic entries

long bones. See skeletal system

long QT syndrome, 459–460

LSD (lysergic acid diethylamide) embryopathy, 292, 293

lung cultures, 53

lungs

   arteriovenous malformation, 485

   bilateral, eparterial trilobed, 455

   bronchi, dilated, in bronchiectasis: cut surface, 484

   Candida septicemia, necrotizing lesions from, 619

   conditions impeding development of, 474

   cystic adenomatoid malformation, 475–478

   cytomegalovirus in alveolar lining cells, 610

   development of

      10 weeks gestation (glandular stage), 474

      20 weeks gestation (canalicular stage), 474

      28 weeks gestation (saccular stage), 474

   examination in situ, 54

   HIV infection, microscopic section of newborn lung with, 616

   hypertension. See pulmonary hypertension

   hypoplastic: in infantile recessive polycystic kidney disease, 474

   lobe irregularities, 474–475

   maturity, indexes of, 470

   pneumocystis carinii in, 616

   sonographic appearance of, 127

   staphylococcal septicemic abscesses of, 602

   surfactant, deficiency of, 482–484

   trilobed, symmetrical, in asplenia, 475

   see also pulmonary entries

lupus erythematosus

   abortions and, 157

   placenta from mother with, 163

   placental abnormalities due to, 164

   stillbirths and, 30

lyme disease (borreliosis), 618–619

lymphangiomas, 551

   microscopic appearance of, 551

   of neonatal mesentery, 551

lymphatics, thoracic, filled with macerated brain, 70

lysergic acid diethylamide (LSD) embryopathy, 292, 293

lysosomal lipid storage diseases, 640–642

maceration

   characteristics of, 26–27

   degrees of, 27

   fetal, 26

   in 16-week fetus, 69

   in 17-week fetus, 70

   in 21-week fetus, 70

   timetable of changes due to, 28

major basic protein, 159

malaria, 618

malformation syndrome, 211, 228

malformations

   blastogenetic, 207

   defined, 207, 211, 227

   mild, 207

      versus minor anomalies, 213

   organogenetic, 207

   periods of origin, 207

   timing of, 210

mandibulofacial dysostosis. See Treacher Collins syndrome

Marden-Walker syndrome, 434

Marfan syndrome

   aorta dissection in, 262

   aortic wall dissection, 263

   characteristics of, 261–262

   clinical manifestations of, 263

   cystic medionecrosis in, 263

   diagnostic criteria for, 263

   eye lens dislocation in, 262

   phenotypic manifestations of, 263

marijuana

   clinical manifestations of intrauterine exposure, 296

   use during pregnancy, 296

maternal floor infarction

   defined, 163

   disorders associated with, 26

   effects of, 26, 158–159

   illustrations, 159

   incidence of, 26

   recurrence of, 159

   stillbirth rate from, 26

maturity, estimating fetal, 310

MCAD (medium-chain acyldehydrogenase deficiency), 649

Meckel diverticulum, 495–496

Meckel syndrome, 122, 232, 357

Meckel syndrome

   clinical manifestations, 231, 524–525

   CNS anomalies, 231

   cystic kidneys in

      in newborn, 526

      in opened abdomen, 232

      microscopic appearance, 232

      surface of, 232

   defined, 231, 524

   genitourinary anomalies, 233–234

   incidence of, 231, 524

   incidence of cardiac malformations in, 434

   occipital encephalocele close-up, 232

   occipital encephalocele, polydactyly, and large abdomen, 231

   rule-out DE specimen, 72

meconium

   aspiration of, 40, 481

   detection of, 51–52

   from 39-weeks-gestation stillborn, 51

   in cystic fibrosis, 491

   in umbilical cord, 176

   in utero evacuation of, 167

   timing of adverse effects from, 167

meconium ileus, 499

meconium peritonitis, 118, 509

meconium plugs, 118, 509

meconium staining, 166–167, 176

mediastinum, ganglioneuroblastoma from: microscopic appearance, 561

medication and substance exposure

   amphetamine use, 129, 466

   cocaine use

      embryopathy from, 295

      stillbirths and, 30

   congenital heart disease and, 129

   diphenylhydantoin use, 129

   heavy metals, 296, 297

   hydantoin use, 466

   lithium use, 129, 466

   marijuana

      clinical manifestations of intrauterine exposure, 296

      use during pregnancy, 296

   prednisone use

      atrioventricular septal defect associated with, 294

      results of first trimester use, 294

      stillborn with cleft lip and palate from, 294

   prescribed drugs and their effects

   Primatene, embryopathy after maternal use of, 293

   progestin, synthetic, 292–293

   retinoic acid use, 129

   sex steroid use, 129, 466

   sympathomimetic drug use

      embryopathy from, 292

      limb defects from, 293

   tetracycline use, 291–292

   trimethadione use, 466

   valproic acid, 287

   Vitamin A, 286–288

   Vitamin D, 288

   see also alcohol use; fetal alcohol syndrome; isotretinoin embryopathy; opiates; thalidomide; toluene embryopathy; Warfarin embryopathy

medium-chain acyldehydrogenase deficiency (MCAD), 649

medullary cyst disease, 524

medullary cysts, 524

medulloblastoma

   defined, 573

   midline cerebellar tumor, 574

      electronmicrograph of, 574

      microscopic appearance of, 574

   pseudorosettes around blood vessels: microscopic appearance, 574

megalencephaly, 357

melanocytic lesions, 595–596

melanotic neuroectodermal tumor of infancy, 564

MEN. See multiple endocrine neoplasia

meningiomas in Proteus syndrome, 264

meningocele, 341

meningomyelocele

   14-week fetus, 342

   calipers delineating, 103

   defined, 341

   lumbosacral area, 103

   ‘question-mark’ incision surrounding, 65

   ruptured, in 20-week fetus, 342

   ultrasound of, 342

Menkes Kinky Hair syndrome

   characteristics of, 246, 586–587

   hair showing pili torti, 587

   infant with, 246

   scalp and hair in, 587

Menkes syndrome (Xq13), 655

meroacrania, 338

mesoderm, 3–6

metabolic disorders, 635–655

   diagnosis of, tissues used for, 637

   inherited: placental pathology, 636

   neonatal death and, 42

metal metabolism disorders, 652–655

metatrophic dysplasia, 396, 398

methotrexate, 96–97, 290–291

micrencephaly, 355

microcephaly

   13-gram brain, 356

   41-day embryo with, 356

   as marker for underlying conditions, 109

   causes, 363

   chondrodysplasia punctata, rhizomelic-type neonate, 417

   classification of, 356

   defined, 355

   fetal alcohol syndrome infant, 286

   in Rubinstein-Taybi syndrome, 239

   in Smith-Lemli-Opitz syndrome, 240

   incidence of, 355, 363

   incidence of karyotypic abnormalities with, 110, 363

   isolated, 356

   measurements determining, 109–110, 363

   primary, 355

   secondary, 356

   toluene embryopathy, child with, 294

‘microgastria-limb reduction’ complex, 434

micrognathia

   in Smith-Lemli-Opitz syndrome, 240

   in trisomy 18, 194

microgyria

   30-week, X-linked hydrocephalic fetus, 351

   defined, 356

   polymicrogyria, 196, 351, 353

midline, 209–213

milia, 579

miliaria

   defined, 579

   miliaria crystallina, 579–580

   miliaria rubra, 579

milium, 580

Miller-Dieker syndrome, lissencephaly type II in, 354

mineralocorticoid hormone biosynthesis and action, gene/gene products involved in, 536

miscarriage. See abortion, spontaneous

mitochondrial abnormalities, 651–652

   classification of, 651

mitral valve

   defect forms, 449–450

   dysplasia, 432

monosomy X. See Turner syndrome

monotopic field defect, 211, 212

morphogenesis

   definitions in abnormal, 211

   types of problems in, 212

morphology and cytogenetic abnormalities, 19

morula, 1

mucolipidoses (MPS), 639–640

mucolipidosis II (I-cell disease)

   characteristics of, 639–640

   child with Hurler-like features, 641

   cultured fibroblasts: phase microscopy, 640, 640

   fetal ascites in, 328

   heart valves in, 641

   placenta: microscopic section, 641

mucopolysaccharidoses, 635–639

multicystic dysplastic kidney (MCDK), 126

multiple endocrine neoplasia

   clinical manifestations of, 270

   genetics of, 270–273

   lip mucosal neuromas in, 273

   pathology per organ in

      MEN 1, 271

      MEN 2A, 271

      MEN 2B, 272

   thyroid carcinoma in, 272, 273

multiple hamartoma (Cowden disease) syndrome, 273–274

multiple pregnancy

   abnormalities, 29–30, 169–170

   intrauterine growth retardation risk and, 316

      markers for, 318

   multiples beyond four, 627

   sonographic evaluation of, 87–88

   ‘twin-peak’ sign of, 88

   see also twins

multiple pterygia (fetal akinesia), 224, 598

MURCS association, 217

Mycobacterium tuberculosis, 606

Mycoplasma hominis, 603

myelocele, 341–343

myelomeningocele. See meningomyelocele

myofibromatosis

   benign myofibroblasts: microscopic appearance, 558

   defined, 556

   dense fibrous lesion, 558

myxopapillary ependymoma, 574

nasal pits, 10

NCL. See neuronal ceroid lipofuscinosis (Batten disease)

neck

   differential diagnostics of, 113–115

   goiter, 114, 576

   hemangiomas, 114–115

   masses on, 576

   normal: sagittal image, 188

   teratomas, 115, 576

   see also cystic hygroma; nuchal

necrotizing enterocolitis

   bacteria common in, 38

   characteristics of, 499–500

   clinical manifestations, 37–38

   illustrated, 500

   incidence, 37

   pathogenesis of

   resected bowel segment, 37

   stages of, 37

neonatal death

   causes by frequency, 34

   causes from congenital anomalies/birth defects, 35

   conditions leading to, 36–42

   defined, 24, 32

   low birth weight and, 33

   prematurity and, 32–36

   risk factors for, 35

   see also perinatal death

neonatal pustular melanosis (NPM), 588–589

nephroblastomatosis, 566

nephrotic syndrome, congenital. See congenital nephrotic syndrome

nerves, peripheral, resected hypertrophied, 255

nervous system. See central nervous system

nesidioblastosis, 570

   microscopic appearance, 570

neural folds, 6

neural groove, 5–6

neural plate, 5

neural tube

   4th-week configuration, 6

   8th week coronal scans, 146

   anomalies, risk screening for, 93

   closure sites, 336

   defined, 6

   disorders of, 85

   formation of, 335–336

   ONTD (open neural tube defect)

      causes of, 338

      long lumbar sacral, 342

      lumbosacral, 103

      thoracolumbar, 342

   sonographic markers of disorders of, 116

neuroblastoma

   adrenal gland, hemorrhagic, necrotic, 560

   characteristics of, 560–562

   etiology, 546

   ganglio-, from mediastinum: microscopic appearance, 561

   immunofluorescence of, 562

   in placental capillaries, 164

   in situ: microscopic appearance, 561

   liver in stage IV-S, 562

   microscopic appearance of, 164, 560

   neurosecretory granules: electronmicrograph, 562

   primary sites of, 560

   skin lesions with ‘blueberry muffin’ appearance, 562

neuroectodermal tumors

   melanotic, of infancy, 564

   pigmented retinal anlage

      gross appearance, 564

      microscopic appearance, 564

   primitive (PNET), 563, 573

neurofibroma

   cut surface of, 255

   defined, 556

   gross appearance, 557

   microscopic appearance, 557

   multiple, of spinal cord nerves, 255

neurofibromatosis (von Recklinghausen disease)

   café-au-lait lesion, 255

   characteristics outlined, 257

   lisch nodules in iris, 255

   middle finger hypertrophy, 255

   multiple, of skin, 255

   nerves, resected hypertrophied, 255

   neurofibroma, cut surface of, 255

   spinal cord with neurofibromas, 255

   spindle cells: microscopic appearance, 256

   Type 1, 254–257

   Type 2, 256–257

   Type 3, 256

   Type 4, 256

   types of, 254–256

neuronal ceroid lipofuscinosis (NCL) (Batten disease)

   clinical and neurophysiological features of, 646

   defined, 645

   heart showing curvilinear bodies: electronmicrograph, 645

nevus

   blue, 595

      histologic appearance, 595

   congenital giant hairy, on trunk of newborn, 596

   sebaceous of Jadassohn, 593

newborn screening, disorders detected by, 636

Niemann-Pick disease, 641–642, 644

nipples, 12

Noonan syndrome, 435

nose

   anteverted nares, in Williams syndrome, 243

   coronal image, 108

   depressed bridge, 289

   hypoplasia of, 289

nostril formation, 10

notochord, 5

NPM (neonatal pustular melanosis), 588–589

nuchal fold

   sonography of, 364

   thickness and cystic hygroma, 333

   thickness as screening tool, 84

   thickness measurement, 148

   thickness of, 112–113, 148–149

   translucency in 14-week trisomy 21 fetus, 188

   translucency measurement, 148

nucleated red blood cells (NRBC), 160

nutritional supplementation: folic acid, 290, 291

occipital diastasis, 40–41

occipital encephalocele, 64

occipital horn syndrome, 270

occipitofrontal diameter, growth evaluation, nomogram for, 674

oculoauriculovertebral dysplasia. See Goldenhar syndrome

OFD (occipitofrontal diameter), growth evaluation, nomogram for, 674

olfactory bulb and tracts, isolated absence, 347

oligohydramnios

   anomaly associated with, 321

   associated complications, 90

   criteria for, 90

   danger of week-long, 36

   illustration, 225

   post-term, 90

   renal agenesis and, 515

   severe, 126–127

omodysplasia, 420

omphalocele

   aneuploidy and, 121, 511–512

   categories of, 511

   characteristics of, 120–121

   defined, 496

   findings, 511

   incidence of, 120, 511

   prognosis, 511

   short umbilical cord with, 174, 307, 496

   survival rate, 121

   ultrasound of, 497

   well-circumscribed: sagittal image, 120

opiates

   abstinence from, syndromes resulting from, 295

   annual fetal exposures to, 295

   clinical manifestations of intrauterine exposure to, 295

   examples of, 294

   pathogenic mechanisms of neurologic toxicity from, 295

   postnatal symptoms after prenatal exposure to, 295

Opitz-Frias ‘G’ syndrome, 435

Opitz syndrome

   characteristics of, 237

   dissected tracheo-bronchial tree, 237

   hypertelorism, 236

   hypoplastic larynx with laryngeal cleft in, 471

   hypospadias, 237

organogenesis

   anomalies of, versus blastogenetic anomalies, 222–223

   summary of, 3

oro-facio-digital syndrome, type I, 435

Osler-Weber-Rendu disease (familial hemorrhagic telangiectasis), 484–485

osteochondrodysplasias

   diagnostically convenient groups of, 391

   generalized, list of, 390

   miscellaneous, 415–420

   revised international classification of, 391

   short-rib, 409

   short trunk, 396–402

   unclassified autosomal recessive, 420

   with abnormal bone density, 410–415

   with platyspondyly, 391–396

      characteristics outlined, 394

      classification of, 393

      forms of, 394–396

      radiograph, 185

      severe, radiograph of, 398

osteogenesis imperfecta

   classification of, 410

   clinical features, 411

   defined, 410

   incidence of, 424

   pathological features

   radiological features, 411

   Type II (OI congenita, OI fetalis, Vrolik disease), 411

      calvaria, 412

      calvaria: microscopic section, 412

      CNS abnormalities in, 411

      femoral fracture: ultrasound, 412

      femur and humerus, 412

      multiple rib fractures, 412

      neonate with multiple fractures, 412

      pathology of, 411

      radiograph after exhumation, 412

   Type III infant, 412

   types of, 410–411

ostium primum atrioventricular septal defect, 437–438

ostium primum defects, 436–438

ostium secundum defects, 436, 438

otic pits, 8

otocephaly

   abnormalities associated with, 214

   defined, 213–214

   illustrations, 214, 383

   incidence of, 214

   pathogenesis of, 216

ova, fertilized, 14

ovaries

   juvenile granulosa cell tumor, 555

   papillary cystadenoma, in Proteus syndrome, 264

   streak, 539

   tumors of, childhood, 551

   yolk sac tumor of, 555

ovotestis: microscopic section, 537

ovum, blighted, 13, 15–16

oxalosis, primary, 652

oxycephaly, 371, 372

pachygyria

   defined, 356–357

   in child with tuberous sclerosis, 357

   in Seckel syndrome, 247

   in Zellweger syndrome, 250

Pallister-Hall syndrome

   characteristics of, 265–266

   clinical manifestations of, 266

   hamartoblastoma at base of brain, 266

   postaxial polydactyly, 266

pancreas

   annular, 506

   cystic fibrosis of, 506

   cysts of, 505

   ducts affected by cystic fibrosis, 507

   heterotopic, 506

   in infant of diabetic mother, 507

   islet cells, microscopic appearance, in Smith-Lemli-Opitz syndrome, 242

   Schwachman-Diamond syndrome, 506

pancreatic adenoma, 570

pancreatic islet: cytomegaly: microscopic appearance, 200

pancreatic tumors, 570

pancreatoblastoma, 570

parvovirus B19, 615–616

   bone marrow with, 616

   hydropic fetus with anemia due to, 615

   intranuclear inclusion: microscopic view, 616

   placenta of hydropic infant with, 615

patent ductus arteriosus, 440–441

Pena-Shokeir I syndrome, 224, 435

Pena-Shokeir II syndrome, 224

Pentalogy of Cantrell

   characterized by, 300–301

   defined, 122

   fetus with, 301

   incidence of cardiac malformations in, 433

perinatal death

   by weight and age, 24

   defined, 23–24

   see also fetal death; neonatal death; stillbirths

periventricular leukomalacia, 36

peroxisomal diseases, 652

persistent left superior vena cava. See superior vena cava, persistent left

   illustrations with posterior view of, 456

   large coronary sinus in heart with, 456

   with absent innominate view, 456

   with hypoplastic innominate vein, 456

Peter-plus syndrome, 435

PFD (polytopic developmental field defect), 211, 212, 217

Pfeiffer syndrome

   cloverleaf skull in, 377

   defined, 376

   features of, 378

phenylketonuria, embryopathy from, 293

pheochromocytoma in von Hippel-Lindau disease, 261

philtrum, long, 286

phocomelia, 284

physis, 391

Piepkorn lethal osteochondrodysplasia, 420

Pierre Robin sequence, 219–220

pituitary, removal at autopsy, 65

placenta

   abnormalities in diabetic mother, 39

   abnormalities of, fetal death and, 23–26

   abruption of, 26, 36, 156

   abscesses, micro, from Listeria, 160

   amniotic bands attached to, 305

   bilobate, 154

   changes in

      bleeding, 156

      from prematurity, 46

      from stillbirth, 46

      grades of, 89

      post-fetal-death, 45–46

   chorangiomas, 162

   circummarginate, 169–170

   circumvallate, 169–170

   color, abnormal, 152–154

   cytotrophoblast persistence, 42

   depth of, 89

   disc abnormalities, 26

   erythroblastosis fetalis: microscopic appearance, 325

   examination at autopsy, 46

   finger attached to, 303

   hematoma behind, 156

   hydropic, 159, 629

   infarction of, 26, 157–158

      cut section: history of smoking, 158

      cut section: preeclampsia, 158

      extensive, 157

      ischemia with, 158

      microscopic section, 158

   infarcts on surface, 157

   ischemia with infarcation, 158

   large, causes of, 154

   location of, 89

   low-lying, 89

   lupus, of maternal, 163

   maternal surface, fibrin-covered, 159

   maturation, abnormal, 161

   membranes

      membrane roll, with cross section, 151

      parts of, 165

      premature rupture of, 32–36

   mucolipidosis II: microscopic section, 641

   multiple pregnancy, 623

   neuroblastoma in capillaries, 164

   post-fetal-death: microscopic appearance, 46

   quadruplet

      8–10 weeks: 4 sacs: ultrasound, 630

      fused, 630

   quintuplet, 630

   shape, abnormal, 154

   situs of, abnormal, 89

   sonographic evaluation of, 89

   succenturiate lobe, 154

   syphilis of, 161

   triplet

      monoamniotic, monochorionic, with single sac, 630

      triamniotic, trichorionic, fused, 630

   triplet-sac, with a vanishing fetus, 628

   twin

      diamnionic, dichorionic: microscopic section of dividing membranes, 624

      gestation monozygosity in diamniotic dichorionic, 170

      membrane between, 170

      types in monozygotic, 622–623

      vanishing: the viable, and the small, 629

      see also twin-to-twin transfusion

   weight

      abnormal, 152

      normal, 8 to 18 weeks, 152

      ratio, placenta:fetus, by age, 152

      singleton placentas, 152

      twin placentas, 153

placenta accreta, 155

placenta increta, 155–156

placenta membranacea, 154–155

placenta percreta, 155–156

placenta previa, 89, 156

placental evaluation, indications for, 151

placental examination

   gross, 150–151

      umbilical cord, 151

   microscopic, 151

      inflammation, 151

      membranes, 151

      villi, 151

placental insufficiency, 32

placental mosaicism

   causes of, 204

   incidence of, 29, 204

   patterns of confined, 205

   types of, 204–205

placental parenchyma, 150

placental ultrasound, 153

placentomegaly

   causes of, 154

   immune hemolytic anemia and, 323

plagiocephaly, 372

pleurosomas, neonate with, 300

PNET (primitive neuroectodermal tumor), 563, 573

pneumocystis carinii in newborn lung with HIV, 616

pneumonia

   adenoviral, 616

   etiology, 486

   intrauterine, 486, 603

   transplacental, 486

   viral, 486

pneumonitis of infancy, chronic, 485–486

pneumothorax, 53

poikiloderma congenitale (Rothmund- Thomson syndrome, congenital cutaneous dystrophy), 594

poliomyelitis, 614

polydactyly

   association with other anomalies, 423

   in syndromes that may be diagnosed prenatally, 424

   in trisomy 13, 188

   post-axial, 190, 266

polyhydramnios

   amniotic fluid index level for, 90

   anomalies associated with, 90, 321

   causes of, 90, 321–322

   defined, 321

   disorders possible with, 104

   incidence of, 321

   sagittal image, 88

polymicrogyria, 196, 351, 353

polyphenotypic tumor

   blue cells, undifferentiated, microscopic appearance, 563

   defined, 563

   forearm in newborn, gross appearance, 563

   orbit in newborn, 563

polyploidy, 102

polysplenia, 454–456

polytopic field defect (PFD), 211, 212, 217

Pompe disease, 435, 646–647

Ponderal index, 318

poor fetal outcome, maternal risk factors for, 35

popliteal pterygium (Batsocas-Papas syndrome), 251–252

porencephalic cysts

   coronal section, 36

   following H.I.E.: ultrasound, 36

porencephaly, 37

postmature infants, 32

postmaturity, 32, 34

Potter facies, infants with

   from oligohydramnios, 516

   from renal agenesis, 516

Potter sequence, 90, 123, 218–219

Prader-Willi syndrome, 435

prednisone use

   atrioventricular septal defect associated with, 294

   results of first trimester use, 294

   stillborn with cleft lip and palate from, 294

pregnancy

   early, critical landmarks in, 95–96

   ectopic

      day 17, 5

      early, βHCG levels and, 97

      intrauterine co-existence with, 97

      ruptured at 10 weeks, hydrocephalus in, 350

      sonographic identification of, 96

   first sonographic evidence of, 96

   intrauterine

      early indicator of, 13

      ectopic co-existence with, 97

      sonographic exclusion of, 97

   molar, 176–178

   nonviable, indicator of, 13

   normal likelihood, βHCG level and, 96–97

   trisomic, prenatal identification of, 183

   see also multiple pregnancy; twins

pregnancy dating, 138

premature rupture of membranes (PROM), 32–36

prematurity

   abnormalities from diabetic mother, 39

   defined, 32

   incidence in U.S., 32–33

      by race, 32–36

   major complications, 32

   placental changes with, 46

   risk factors for, 33, 35

premaxilla, protrusion of, 190

prenatal diagnostic screening, sonographic

   controversial nature of, 90

   epidemiological factors in, 91

   factors affecting sensitivity of, 90–91

   patients appropriate for, 92

   risk adjustment after, 92

   value of routine, survey of, 91–92

Primatene, embryopathy after maternal use of, 293

primitive neuroectodermal tumor (PNET), 563, 573

primitive streak, 4–5

products of conception, examination of, 13–16

progestin, synthetic, embryopathy from, 292–293

PROM (premature rupture of membranes), 32–36

prostate in obstructive uropathy, 522

Proteus syndrome

   brain abnormalities in, 265

   clinical manifestations of, 264

   defined, 262–265

   feet: dorsal surface, 264

   fingers, overgrowth of, 264

   foot, sole of, 264

   meningiomas in, 264

   neoplasms in, 265

   ovarian mucinous cystadenoma: microscopic section, 264

   ovarian papillary cystadenoma, 264

   possible findings in, 265

prune belly sequence/syndrome

   32-week fetus: dilated bladder and ureters, 524

   cause of, 328

   defined, 219, 523

   features of, 523–524

   illustration, 524

   incidence of, 219, 523

   infant with, 220

   manifestations of, 435

pseudohermaphroditism, female, 536

pseudotrisomy 13, 435

pterygia

   elbow, in Batsocas-Papas syndrome, 252

   multiple (fetal akinesia), 224, 598

pulmonary arteriovenous fistula, 484–485

pulmonary artery and aorta

   ‘crossing’ views of, 464

   opened, 441

pulmonary atresia, 448, 450

pulmonary hemorrhage, 484–485

pulmonary hypertension

   grading of, 485

   primary, 485

   secondary, 485

pulmonary hypoplasia

   assessment, criteria for, 473

   cause of, 474

   developmental phases, 473

pulmonary interstitial emphysema, 480

pulmonary lymphangiectasis, congenital, 478

   gross and microscopic appearances, 479

pulmonary sequestration

   anomalies associated with, 480

   cause of, 131

   defined, 130–131, 478

   extralobar, 131, 478–480

   intralobar, 131, 478–479

   microscopic appearance of, 479

   sonographic appearance, 131

pulmonary stenosis with intact ventricular septum, 448, 450

pulmonary venous connections

   assessing at autopsy, 55

   evaluating with pulse Doppler, 137

   partial anomalous, 445

   total anomalous, 445, 455

purine metabolism defects

pustular melanosis, neonatal (NPM), 588–589

PVL (periventricular leukomalacia), 37

pyelectasis, 124–125

pyloric stenosis

   barium swallow X-ray, 492

   gross appearance, 492

pyogenic granuloma, 548

Q-fever, 618

quadrigeminate plate, 351

quadruplets

   birth weights, range of mean, 627

   gestational age at delivery, mean, 627

   gestational complications, 626–627

   incidence of, 626

   neonatal morbidity, 627

   placentas

      8–10 weeks: four sacs: ultrasound, 630

      fused, 630

   zygosity, 626–627

‘question mark’ incisions, 64, 65

quintuplet placenta, 630

radial aplasia, 243, 420, 422–423

radial hypoplasia, 420, 422

radiation, teratogenic effects of, 278

RADIUS study, 91–92

Raine syndrome

   bone trabeculae and periosteum, 421

   defined, 420

   unique facies, 421

renal adysplasia, hereditary

   defined, 520

   illustration, 520

   microscopic section, 516

renal cystic diseases, classification of, 515

renal dysplasia, 518–520

renal-hepatic-pancreatic dysplasia, 435

renal pelvis, 124

renal tubular dysgenesis, congenital, 528

resistance index, 79

respiratory tract, development of, 472

restrictive dermopathy. See dermopathy, restrictive

Retin A, 287

retinal dysgenesis, 193

retinal pigment

   early, 10

   stage of initial appearance, 10

retinoblastoma

   characteristics of, 564

   Flexner-Winterstein rosettes in: microscopic appearance, 564

   forms and etiology of, 564

   incidence of, 564

   large tumor in newborn’s enucleated eye, 564

   ophthalmoscopic appearance, 564

   retinal dysgenesis with, 193

retinoic acid, maternal use, 129

rhabdoid tumors

   atypical

      defined, 575

      microscopic appearance, 575

      overview, 575

      positive for epithelial membrane antigen immunostain, 575

   defined, 566

   illustrated, 567

   intermediate filament whorls: electronmicrograph, 567

rhabdomyomas, fetal

   defined, 548

   involving epicardium, 259

   multiple cardiac in newborn with tuberous sclerosis, 548

   ‘spider’ cells: microscopic appearance, 259, 548

rhabdomyosarcomas

   alveolar

      defined, 549

      electronmicrograph of, 550

      microscopic appearance of, 550

   bone marrow aspirate with cells of, 550

   botryoid

      clusters from neonatal vaginal orifice, 550

      defined, 549

      microscopic appearance of, 550

   characteristics of, 549

   childhood, 549

   embryonal

      microscopic appearance, 549

      subtypes, 549

   excised from thigh of newborn, 549

   pleomorphic form of, 550

   spindle cell, 549

rhagades, 590

rhizomelic chondrodysplasia punctata, 415

right atrium

   dilated, in 28-week fetus: ultrasound, 432

   morphology of, 55

right retroperitoneal mass, 70

right ventricle

   20-week gestation: hypoplastic, with TV regurgitation: ultrasound with color Doppler, 449

   22-week gestation: hypoplastic, and PA stenosis: ultrasound, 449

   22-week gestation: ultrasound, 449

   communication with parietal encephalocele, 66

   double-outlet, with atrioventricular septal defect, 455

   hypoplastic, 449

   morphology of, 58

   small: ultrasound with color Doppler, 449

Ritscher-Schinzel (3C) syndrome, 435

Ritter disease (staphylococcal scalded skin syndrome), 583

Roberts syndrome, 238–239, 435

Robin sequence, 219–220

Robinow (fetal face) syndrome

   abnormalities summarized, 232–236

   characteristics of, 235–237

   infant with large head, forehead, and hypertelorism, 236

Robinson defect, 214

Rosenthal fibers, 573

Rothmund-Thomson syndrome (congenital cutaneous dystrophy, Poikiloderma congenitale), 594

rubella

   cardiac disorders associated with, 129

   complication rate with, 279

   confirmation of, 609

   congenital

      cardiac malformations in, 435, 609

      cataracts in infant with, 280, 608

      GI tract malformations in, 609

      pulmonary artery branch, 609

      thymus lobule atrophy, lymphocyte depletion, etc., 609

   defects per gestational age, 279

   defined, 608

   diagnosis of, 609

   effects on fetuses, 608–609

   illustrations of syndrome, 278, 608

   incidence of abortion from, 608

   incidence of cardiac malformations in, 435

Rubinstein-Taybi syndrome, 239–240

rump-heel measurement, 50

sacrococcygeal mass, 70

sacrococcygeal teratoma

   defects associated with, 554

   illustration, 553

   incidence of, 553

   Type I, 552

   Type II, 552

   Type III, 552

   Type IV, 552

Saethre-Chotzen syndrome

   defined, 377–378

   features of, 379

   infant with hypertelorism, beak nose, syndactyly, 379

sarcomas, undifferentiated, 549–550

scalp

   aplasia of (Goltz syndrome), 244

   incision path to reflect, 62

   midline defect, 190

   reflected, in hypophosphatasia, 414

   reflected skin of, 62

   reflected skin revealing encephalocele, 66

   vascular plexus, 12

scaphocephaly, 372

schisis PFD, 217–218

schizencephaly, 358

schneckenbecken dysplasia (snail pelvis), 396

Schnizel-Giedion syndrome, 435

Schwachman-Diamond syndrome, 506

scleredema, 592

sclerema neonatorum, 591

S/D ratio, 79

sebaceous nevus of Jadassohn, 593–594

sebaceous nevus syndrome, linear, 594

seborrheic dermatitis, 579–580

Seckel syndrome

   22-week fetus, 247

   abnormalities: categorical summary, 248

   CNS abnormalities, 247–248

   craniofacial characteristics, 246–247

   defined, 246

   dental abnormalities, 248

   dwarfism in, 248

   endocrine abnormalities, 248

   etiology of, 248

   heart defects, 248

   hematopoietic disorders in, 248–249

   skeletal characteristics, 247

sequences, 218

sex, determination of, 1

sex differentiation and morphogenesis flow sheet, 542

sex differentiation disorders schematic, 543

sex hormone biosynthesis and action, gene/gene products involved in, 536

sex steroid use, 129, 466

sexual identification by age, 530

SFN (subcutaneous fat necrosis), 591

SGA (small for gestational age), 13, 317–318

short bowel syndrome, 496

short-rib polydactyly syndromes, 409

   classification of, 408

   type I clinical features, 410

   type I dysplasia in newborn, 409

   type I in premature neonate: radiograph, 409

   type I pathologic features, 410

   type I physeal fibrosis: histological section, 409

   type I short ribs: ultrasound, 409

short trunk osteochondrodysplasias, 396–402

sialidosis, lymphocyte vacuoles in, 641

sialoblastoma, 569

sickle cell anemia, 163

   red blood cells with, 164

simean crease, 186

single pocket technique, 318

sinus venosus defect, 436

sirenomelia

   10-week fetus with, 215

   abnormalities associated with, 216

   defined, 216

   incidence of, 216

   infant of diabetic mother, 297

   schisis association and, 217

   time of development, 216

situs inversus

   abdominal organs with, 53

   dextrocardia in fetus with, 454

skeletal system

   bone dysplasias, prenatal diagnosis of, 390

   bone formation, 388

   BPD/femur-length ratio, 132

      by gestational age, 425

   campomelic dysplasia: radiograph, 419

   chondrodystrophies, 132

   dysplasias, 132–133, 424

   femur-length/foot-length ratio, 132, 425

   head-circumference/abdominal- circumference ratio, 140

   head-circumference/femur-length ratio, 109–110, 132, 425

   joints, bulbous enlargement, in newborn, 398

   long bones

      assessing length of, 132–133, 424–425

      shortening, syndromes associated with, 131–132, 423–424

   ossification, normal endochondral, 389

   rib and vertebral anomalies (Goltz syndrome): X-ray, 245

   ribs, severe shortening of, 406

   upper limb defects (Goltz syndrome): X-ray, 245

   see also skull

skin disorders

   acrodermatitis enteropathica, 584

   acropustulosis of infancy, 588

   blue nevus, 595

   Candida infection, 168, 589

   chronic bullous disease of childhood (CBDC) (linear IgA dermatosis), 583–584

   cutaneous dystrophy, congenital (Rothmund-Thomson syndrome, Poikiloderma congenitale), 594

   ectodermal dysplasias, 597–598

   epidermolysis bullosa, 581, 582

   ETN. See erythema toxicum neonatorum (ETN)

   facial skin: angiofibromas in tuberous sclerosis, 258

   herpes simplex, 281, 590–591, 612

   hyperelasticity of, in Ehlers-Danlos syndrome, 267

   impetigo, 588–590

   incontinentia pigmenti, 584

   lamellar ichthyosis: hyperkeratotic skin: microscopic appearance, 585

   Langerhans cell histocytosis, 598–599

   Leiner disease (desquamative erythroderma), 580

   LEOPARD syndrome, 596

   linear sebaceous nevus syndrome, 594

   melanocytic lesions, 595–596

   neurofibromatosis, multiple, 255

   NPM (neonatal pustular melanosis), 588–589

   pterygia, multiple (fetal akinesia), 224, 598

   restrictive dermopathy, 592–593

   rhagades, 590

   scleredema, 592

   sclerema neonatorum, 591

   sebaceous nevus of Jadassohn, 593–594

   seborrheic dermatitis, 579–580

   SFN (subcutaneous fat necrosis), 591

   staphylococcal scalded skin syndrome (Ritter disease), 583

   syphilitic skin lesions, 589–590

   toxic epidermal necrolysis (TEN) (Lyell type), 583

   trichothiodystrophy (IBIDS), 586–587

   urticaria pigmentosa, 597

   xeroderma pigmentosum, 597

   see also ichthyosis; varicella/zoster infection

skull

   base of, 66, 67

   cleidocranial dysplasia, 381

   cloverleaf (kleeblattschädel)

      26-week fetus after scalp reflection, 377

      characteristics of, 375–376

      illustration, 372

      in newborn, with thanatophoric dysplasia, 396

      Pfeiffer syndrome with, 377

      thanatophoric dysplasia and, 109

      ultrasound of, 396

   demineralized, in hypophosphatasia: ultrasound, 414

   excessively round, 109

   falx cerebri, calcification of: X-ray, 266

   fracture from forceps delivery, 41

   jaw, prognathism of lower, 71

   ‘lemon sign,’ 109, 363

   malformations of, 371–381

   posterior fossa

      cyst in Dandy-Walker malformation, 352

      cyst incidence in, 112, 364

      sonography of, 364

   ‘question mark’ incision, 64, 65

   shape abnormalities, 109

   shape as indicator, 109

   ‘strawberry,’ 109, 363

   top, with skin reflected, 63

   see also specific disorders and syndromes

small blue cell tumors

   of childhood, 560

   of newborn: histopathologic differential diagnosis of, 561

   primitive neuroectodermal tumor (PNET), 563, 573

small cell tumor, malignant thoracopulmonary, 563

small for gestational age (SGA), 13, 317–318

Smith-Lemli-Opitz syndrome

   abnormalities summarized, 242

   ambiguous genitalia in male, 241

   brain surface, and hyperchromatic islet cells of pancreas, 242

   characteristics at birth, 241

   clinical manifestations, 240–241

   cystic kidney, 241

      large dysplastic, 527

   defined, 240–241, 528

   fetal manifestations, 241

   incidence of cardiac malformations in, 435

   micrognathia, microcephaly, and large ear, 240

   syndactyly of 2nd and 3rd toes, and polydactyly, 241

smoking

   abruptio placentae and, 26

   effects of, 313

   fetal death and, 30

   placenta previa and, 156

   placental ischemia with infarcation after, 158

snail pelvis (schneckenbecken dysplasia), 396

snuffles, 284

somites, 3, 6

sonographic studies

   advanced, 83–84

   basic, 83

   components of, 84–90

   factors affecting sensitivity of, 90–91

   first trimester, 84, 95–98

   limited, 82–83

   multiple gestation cases, 87–88

   second/third trimester, 84–87

   value of routine prenatal, survey of, 91–92

sonography

   abdominal, 117–118

   antenatal

      advisability of, 80

      indications for, 80–81

      routine, 80

   biophysical profiles by, 82

   cardiac, 460–467

   Doppler‘s benefits, 82–83

   intrauterine pregnancy exclusion by, 97

   non-stress testing, 82

   utilization patterns, 80

   see also sonographic studies; ultrasound

sphingolipidosis, 641–642

sphingolipids, structure of, 643

sphingomyelinase deficiency, 641–642

spina bifida occulta, 342

spinal column sonographic evaluation, 115–116

spinal cord

   anterior horn cells in, 640

   multiple neurofibromas of nerves in, 255

   removal at autopsy

      anterior approach, 63–64

      posterior approach with brain and myelomeningocele intact, 64–65

   with brain and myelomeningocele intact, 65

spinal rachischisis, 71

spindle cell rhabdomyosarcoma, 549

spine

   cervical, 123

   sonographic evaluation of, 85

   thoracolumbar, with attached ribs, 73

spleen

   hepatosplenomegaly, 280

   heterotopic, 506

   in Niemann-Pick disease, 644

spondylocostal dysplasia, 435

spondyloepiphyseal dysplasia congenita

   chondrocyte with dilated cisternae: electronmicrograph, 403

   chondrocytes, 403

   clinical features, 400

   newborn with, 403

   pathologic features, 400

   radiological features, 400

   vertebral bodies, reniform ilia, and limb bones: radiograph, 403

squamous metaplasia, 165

stages of embryonic developmental, 1–12

staphylococcal scalded skin syndrome (Ritter disease), 583

staphylococcal septicemia in neonate

   liver with multiple abscesses, 602

   lungs with cavitary abscesses, 602

stem cell villous, arteriole from, 164

sternum, defect in fetus, 301

stillbirths

   24-week: with simian crease, 186

   chromosomal defects in, 29

   defined, 23

   diabetes mellitus and, 30

   drug abuse and, 30

   fetal abnormalities in, 26–29

   major malformations, 28–29

   maternal factors in, 30

   placental changes with, 46

   systemic lupus erythematosus and, 30

   weights and measurements of: means and standard deviations, 665

   see also fetal death; perinatal death

stippling of epiphyses, calcific, 421–422

stomach bubble

   absent, 116–117, 507–508

   colon, diameter of, 119

   double, 116, 118, 507

   location of, 85, 116

   right-sided, 116, 507

   size of, 116

   swallowed particulate matter in, 116

stomach size by gestational age, 507

storage disorders

   Austin disease (multiple sulfatase deficiency), 645

   cholesterol ester storage disease, 645

   Gaucher disease, 640–641, 643

   leukodystrophy, metachromatic, 644

   mucolipidosis II (I-cell disease), 328, 639–641

   mucopolysaccharidoses, 635–639

   neuronal ceroid lipofuscinosis (NCL) (Batten disease)

   Niemann-Pick disease, 641–642, 644

   Pompe disease, 435, 646–647

   vacuolated lymphocytes in, 637

   von Gierke disease, 646

   Wolman disease, 645

subaortic stenosis, 451

subcutaneous fat necrosis (SFN), 591

subependymal giant cell astrocytoma, 572–573

subgaleal hemorrhage, 41

SUC (short umbilical cord syndrome). See umbilical cord, short

suction extraction, subgaleal hemorrhage from, 41

sulfatase deficiency, multiple (Austin disease), 645

superior vena cava, persistent left, 456

   condition suggesting, 54–55

   illustrations with posterior view of, 456

   large coronary sinus in heart with, 456

   with absent innominate view, 456

   with hypoplastic innominate vein, 456

surfactant, deficiency of, 482–484

sympathomimetic drugs, maternal use of

   embryopathy from, 292

   limb defects from, 293

syncytiotrophoblast, 4

syndactyly, in syndromes that may be diagnosed prenatally, 424

syndromes

   defined, 227–228

   malformation, 227–228

   multiple-malformation, incidence of cardiac malformations in, 433

syphilis

   congenital

      effects of, 604–606

      Hutchinson teeth from, 604

      infant with hemorrhagic nasal discharge, 604

      infant with scaly eruption, 591

      lung showing ‘pneumonia alba,’ 604

      serologic tests used in, 605

      signs of late, 605

      spirochetes present in placenta, 604

      symptomatic cases of, findings in, 605

   fetal symptoms, 604

   fetal syndrome, 283

   mode of infection, 603–604

   placental, 161

   skin lesions from, 589–590

   snuffles in infant with congenital, 284

systemic lupus erythematosus, stillbirths and, 30

tachyarrhythmias, 466–467

tachycardia, 137

Taussig-Bing malformation, 446

Tay Sach’s disease, 644

teeth. See dental abnormalities

TEF. See tracheoesophageal fistula

Tei-index, 114

temporal bone removal

   cuts needed for, 67

   procedure, 66–67

TEN (toxic epidermal necrolysis) (Lyell type), 583

teratogens

   defined, 275–278

   environmental exposures and effects, 277

   infections, 278

   maternal factors, 277

   prescribed drugs and effects

   radiation, 278

   site of action of, 276

   time of action of, 276

teratoid tumor, atypical, 575

teratomas

   benign: microscopic appearance, 553

   cervical, 115, 576

   defined, 131, 552

   fetus in fetu and, 553

   maxillary (epignathus), 553

   mediastinal: ultrasound, 553

   sacrococcygeal

      defects associated with, 554

      defined, 553

      squamous elements with keratin, 553

      Type I, 552

      Type II, 552

      Type III, 552

      Type IV, 552

   sites of, in children, 554

   sites of perinatal, 554

   thyrocervical, 553

testes

   in Klinefelter syndrome, 204

   juvenile granulosa cell tumor, 555

   small, in karyotype 47, XXY, 203

   tumor showing cystic and solid components, 554

   tumors of, childhood, 555

   tumors of, newborn, 555

tetracycline: embryopathy from maternal use, 291–292

tetralogy of Fallot

   23-week gestation, ultrasounds of, 447

   anomalies associated with, 447

   cause of, 446–447

   components of, 446

   diagram of blood flow in heart with, 447

   incidence of, 446

   maternal phenylketonuria and, 129

   X-ray appearance, 448

tetraploidy, 182–183

thalidomide

   cardiac abnormalities risk and, 466

   duodenal atresia and, 510

   embryopathy from, 283–284

   exposure to, 129

thanatophoric dwarfism, 394

thanatophoric dysplasia

   cartilage: photomicrograph, 395

   characteristics of, 394

   clover-leaf skull in neonate, 396

   clover-leaf skull: ultrasound, 396

   fibrosis band at physis periphery, 395

   incidence of, 394

      live-birth, 424

   neonate with large head, 395

   newborn: X-ray, 396

   prominent platyspondyly, 395

thermal index (TI), 76–77

Thomas syndrome, 435

thoraco-abdominal body wall defect, 300, 301, 457

thorax

   8-week embryo: midline facial defect, thoracic wall defect, and ectopia cordis, 368

   abnormal shape of, 127

   bronchial atresia, 129

   in situ examination at autopsy, 53–54

   organs in full-term fetus, 54

   organs in premature fetus, 54

   sonographic evaluation of, 127–128

   thoracic/abdominal-circumference ratio, 127

   thoracic/head-circumference ratio, 127

   tracheal atresia, 131, 473

   see also chest; diaphragmatic hernias

thrombocytopenia – aplasia of radius, 244

thymus gland, 54, 185

thyroglossal duct cyst, 569

thyroid

   carcinoma of, in MEN type 2B, 272, 273

   enlarged (goiter), 114, 576

   tumors of, 569

toe rays, 12

toes

   bulbous, in Rubinstein-Taybi syndrome, 239

   right: transverse reduction defects, 307

   syndactyly of 2nd and 3rd, and polydactyly, in Smith-Lemli-Opitz syndrome, 241

   triploidy, 200

   see also polydactyly

toluene embryopathy

   action of chemical, 293

   child with, 294

   defined, 293

   effects and incidence, 293–294

tongue

   large, 71

      in Wiedemann-Beckwith syndrome, 230

   papules on, in Cowden syndrome, 273

   removal in autopsy, 59

Townes-Brocks syndrome, 436

toxic epidermal necrolysis (TEN) (Lyell type), 583

toxoplasma gondii, life cycle of, 606

toxoplasmosis

   appearance with ventriculomegaly, 360

   congenital, 606–607

      brain, necrotizing lesions in, 607

      cerebral surface, showing necrotic and calcification effects, 606

      chorioretinitis in, 607

      incidence per type of symptom, 607

      life cycle of toxoplasma gondii, 606

   embryopathy from, 282–283

   evaluation for, 105–106

tracheal agenesis, 473

tracheal atresia, 131, 473

tracheo-bronchial tree, in Opitz syndrome, 237

tracheoesophageal fistula (TEF)

   anomalies associated with, 471–473

   blind end of proximal esophagus, 472

   distal end, communicating with carina, 472

   esophageal atresia and, 470–471, 491

   incidence of, 470–471

   symptoms, 471

   types of, 471

transposition of great vessels

   complete, 442

   corrected, 442–443

   diagram of blood flow in, 442

   normally positioned RV, with VSD, 442

TRAP (twin reversed arterial perfusion), 623–624, 627

Treacher Collins syndrome (mandibulofacial dysostosis)

   features of, 237–238, 381–383

   illustrations, 238, 381, 382

   outlined, 382

trichothiodystrophy

   defined, 586–587

   hair shaft showing disruption: electronmicroscopic appearance, 586

   light and dark bands of, 586

   signs and symptoms associated with, 587

   sparse, brittle, coarse hair, 586

tricuspid valve

   atresia, 448

      diagram of blood flow in heart with, 448

      opened right atrium in a heart with, 448

   dysplasia, 432

   regurgitation through, 432

trigonocephaly, 371, 372

trimethadione syndrome, 129, 287, 288

trimethadione use, 466

triplets

   delivery modes, 626

   incidence of, 626

   loss rates, 626

   placentas

      monoamniotic, monochorionic, with single sac, 630

      triamniotic, trichorionic, fused, 630

   placentation in, 626

   transfusion in triamniotic dichorionic placenta, 627

   umbilical cord anomaly incidence, 626

   vanishing triplet, 628

   velamentous insertions with, 626

   zygosity of naturally-conceived, 623

triploidy

   9-week, spontaneously-aborted fetus with bilateral cleft lip, 369

   abnormalities associated with

      cardiopulmonary, 201

      central nervous system, 201

      craniofacial, 201

      gastrointestinal, 201

      general, 201

      genitourinary, 201

      maternal/placental, 201

      ocular, 201

      skeletal and extremities, 201

   causes of, 199

   chromosomal bases of, 182, 201

   facial abnormalities, 199

   femur shortening in, 425

   incidence of, 182, 201

   mortality from, 182

   placenta: microscopic section, 200

   placenta with partial hydatidiform mole, 200

   toes, 200

   types of, 199–200

trisomy 8

   clinical clues for, 195

   ears, 197

   hands, 197

   lymphedema and multiple anomalies, 197

   plantar furrows and malpositioned toes, 197

   see also trisomy 8 mosaicism malformations

trisomy 8 mosaicism malformations, 197

   central nervous system, 197

   craniofacial, 197

   genitourinary, 197

   limb and trunk, 197

   ocular, 197

   skeletal, 197

   visceral, 197

trisomy 13

   anomalies in infants with, 102

   dermatoglyphics, 191

   facial defects, 188, 192

   femur shortening in, 425

   genetic aspects, 190

   holoprosencephaly spectrum, 193

   incidence, 191

   kidneys, 190

   malformations in

      cardiovascular, 194

      central nervous system, 194

      external, 194

      genitourinary, 194

      ocular, 194

      visceral, 194

   mortality, 190

trisomy 16, 182

trisomy 18

   32-week fetus with micrognathia, 194

   common additional findings with, 106

   femur shortening in, 425

   findings characteristic of, 102, 192

   index finger overlapping middle, 195

   malformations in

      cardiovascular, 196

      central nervous system, 196

      gastrointestinal, 196

      ocular, 196

      skeletal, 196

      urogenital, 196

      visceral, 196

   multivalvular heart, 195

   risk of, with choroid cysts, 106, 362

   rocker-bottom feet in, 194, 195

trisomy 21 (Down syndrome)

   22-week fetal profile, 187

   22-week fetus: atrioventricular septal defect: ultrasound, 439

   24-week stillborn with simian crease, 186

   abnormalities observed in

      cardiac, 189–439

      CNS – brain, 189

      endocrine, 189

      general, 189

      hematologic, 189

      immune system, 189

      renal, 189

      visceral, 189

   age when appearance visible, 185

   brain, 188

   clefts, bilateral, with residual premaxilla, 385

   dermatoglyphics of, 186

   fetus with cystic hygromas, 331

   fetuses, first trimester death of, 182

   foot: ultrasound, 187

   hand bones X-ray, 187

   humerus shortening in, 132

   hypertelorism in, 188

   IFC/FL ratios in, 425

   incidence of, 186–188

   iris, Brushfield spots on, 187

   lobulus missing, 386

   maternal AFP levels and, 185–187

   maternal age and, 185, 188

   polydactyly in, 188

   risks per parental translocation carrier, 188–190

   thymus abnormalities in, 185

trisomy 22, 195

trophoblast, 2, 4

truncus arteriosus

   20-week gestation: ultrasound, 444

   20-week gestation, with VSD: ultrasound, 444

   37-week gestation with: ultrasound, 444

   defined, 443

   diagram of blood flow in heart with, 444

   Type I, 444

   types of, 443–444

tuberculosis, liver in congenital, 606

tuberous sclerosis

   astrocytoma, giant cell, 259

   brain, coronal section, 258

   brain pachygyria, 259

   characteristics of, 258–260

   defined, 525–526

   facial skin angiofibromas, 258

   hamartomatosis: microscopic appearance, 259

   kidney with angiomyolipomas, 259, 526

   leiomyomatosis in lung, 260

   manifestations outlined, 258

   outlined, 526

   pachygyria in child with, 357

   rhabdomyomas

      involving epicardium, 547

      multiple cardiac in newborn, 548

   subungual nodule, 258

tumors

   brain, 571–575

   cardiac, 570

   childhood, chromosomal abnormalities associated with, 547

   congenital, composition of, 546

   familial syndromes of, 577

   fibrous, of infancy and childhood, 557

   giant cell fibroblastoma, 559–560

   intracranial, of childhood, 572

   neuroectodermal, 560–564

   pancreatic, 570

   renal, classification of fetal and newborn, 566

   small blue cell, of childhood, 560

   thyroid, 569

   see also tumors, embryonic

tumors, embryonic

   course of, 546

   germ cell, 552–559

      WHO classification of, 551

   malignant, incidence in newborn, 546

   morphologic features of, 546

Turner syndrome (monosomy X)

   abnormalities associated with

      cardiovascular, 204

      central nervous system, 204

      endocrine, 204

      genitourinary, 185, 203

      infant/childhood/adolescent, 203

      ocular, 204

      summarized, 200, 203

   embryonic survival rate, 201

   features visible sonographically, 203

   femur shortening in, 425

   fetus with cystic hygromas, 331

   fetus with multiloculated cystic hygromas, 331

   genetic aspects, 203

   hands and feet

      edematous, 202

      typical appearance of, 331

   incidence of, 201

   indicators of, 183, 203

   maternal X retention in, 201

   mosaic chromosomal complement in, 201

   overview of, 202

   streak ovaries in, 539

turricephaly, 371, 372

twin placentas, mean weights, 153

twin-to-twin transfusion

   common form of, 170

   intrauterine death due to, 626

   placentas

      appearance of, 170

      diamniotic, dichorionic: injection study, 625

      diamniotic, monochorionic, 625

      diamniotic, monochorionic: injection study, 625

      villous tissue in, 170

   recipient liver: ultrasound, 626

   recipient twin with ascites, 626

   twin reversed arterial perfusion, 623–624, 627

twins

   20-weeks gestation: ultrasound, 625

   28-weeks gestation: 3D-ultrasound, 625

   brain, ‘swiss cheese,’ in surviving twin, 629

   conjoined

      anatomic classification of, 628

      anomalies in, 632–633

      blood flow in thoracopagus, 631

      cephalothoracopagus, 632

      dicephalus dibrachus dipus (2 heads, 2 arms, 2 legs), 632

      diprosopus in, 632

      etiology, 627–632

      incidence of, 632

      placental form in, 623, 632

      separate hearts with shared atrium in, 633

      thoracopagus, 631

      zygosity of, 623

   cord entanglement, with fetal death, 628

   dichorionic, 623

   early gestation with 2 yolk sacs, 624

   embryonic, monochorionic monoamniotic, 10, 624

   greatest risk to, 170

   growth patterns of, 316

   incidence of, 622

   intrauterine growth retardation risk and, 316

   membrane dividing: ultrasound, 624

   monozygotic

      initial mechanism, 622

      placentation in, 622–623

      risks for, 623–625

   placental types with, 623

   ‘polar body,’ 622

   vanishing

      amorphous calcified

       gross appearance, 629

       microscopic appearance, 629

      normal twin and dead vanishing: ultrasound, 629

      phenomenon outlined, 623

      placenta, viable, and small, 629

   vascular disruption in, 301

   zygosity determination, 622

   see also twin-to-twin transfusion

ulegyria, 356

ultrasound

   advances since 1970’s, 143

   ALARA standard, 77–78

   basic effect of, 76

   basic operation, 77

   capabilities per gestational age, 143–148

   endovaginal, 143

      transabdominal versus, 148–149

   energy indices, 76–77

   frequencies used, 77

   gestational age measurements by, 2, 88–89

   image generation modes

      3D, 79–80

      A mode, 78

      B mode, 78

      color flow, 78–79

      M mode, 78

      summarized, 78

   image resolution

      minimizing obesity’s effect on, 77

      objects adversely affecting, 77

   mechanical index, 77

   potential ill effects of, 76

   power limit, current FDA, 76

   prenatal evaluation by, 12–13

   resistance index, 79

   safety issues, 76–78

   scanning depth ranges, 77

   S/D ratio, 79

   thermal index (TI), 76–77

   see also sonographic studies; sonography

umbilical artery

   Doppler velocimetry of, 85–87

   illustration, 52

   single

      aneuploidy and, 133, 544–545

      anomalies associated with, 133

      cause of, 171

      cross section, 171

      determination of, 171

      incidence of, 133, 171

      incidence of associated abnormalities, 544

      possible causes, 133

      sonographic evaluation of, 133, 544

      ultrasound of, 171

umbilical cord

   12th week: 3-D view, 147

   abnormalities, 170–176

   attached abdominal wall and, 69

   blood flow, with normal insertion, 88

   coiling of, corkscrew, 173

   compression, 24

   constriction from amniotic bands, 169, 306

   cross sections

      with single artery, 171

   early formation of, 12

   edema of, 175

      ultrasound of, 175

   growth of, linear, factors in, 304

   hematoma of, 174

   hypercoiled, 25

   inflammation, 176

   insertion

      axial image, 119

      constriction and twisting at, 26

      furcate, 171

      normal, 86

      velamentous, 24, 26, 171–172, 626

   involvement in fetal death, 23–24

   knots, 24, 172

      false, 172

      true, 172

       complex, 172

   length

      by age (8–18 weeks), 153

      by age (20–43 weeks), 153

      determinants of, 173–174, 305

   long

      defined, 173

      problems involving, 23, 174

   meconium in, 176

   normal, 85

   nuchal, 24

      neck constriction from, 25

      tight, 175

      with death and maceration, 25

   prolapse of, 24

   short

      20 cm., 175

      anomalies associated with, 305

      defined, 173–174

      etiology of, 304, 496–497

      fetus with: ultrasound, 307

      neonates with, 300, 307

      problems involving, 23–24

      syndrome anomalies by group, 306–307

      with omphalocele, 174, 307, 496

   sonographic evaluation of, 85–87

   strictures in, 174

   three-vessel: sagittal image, 88

   thrombosis algorithm, 173

   tight, 175

   twins

      entanglement, with fetal death, 628

      insertion of monoamniotic, monochorionic cords, 628

   twisted, 25, 173, 175

   vascular thrombosis of, 173

   with cyst, 69

   see also umbilical artery; umbilical vein

umbilical vascular thrombosis, 173

umbilical vein

   function of, 429

   illustration, 52

   premature involution of, 119–120

   thrombosis of, microscopic section, 173

urea cycle disorders, 647–648

Ureaplasma urealyticum, 603

ureter duplication, 513

urethral agenesis, 519

urethral mucous membrane, valvular folds in, 522

urethral valves, posterior, 522

   gross appearance, 523

   sequence, 522

   types of, 522

uropathy, obstructive, 124

   consequences of, 522

   prostate in, 522

urorectal septum, 499

urticaria pigmentosa, 597

uterus

   bicornuate, 73

      with septate cervix and vagina, 537

      with septate vagina, 535

   septate, 535

      with septate vagina, 535

   unicornate, 535

VACTERL association, 436

vagina, atresia of, 535

valproic acid embryopathy, 287

Van der Woude syndrome, 436

varicella/zoster infection

   defined, 591

   embryopathy from, 281–282

   fetal infection, 613

   manifestations of, 613–614

   maternal, 279, 612–613

   skin of newborn showing vesicles, 613

   vesicles closeup, 613

vasa previa, 26

vascular rings, 457

vasculopathy, decidual, 164–165

VATER polytopic field defect

   characteristics of, 217, 218

   dissected organs in, 217

   heart defects in, 431

venous-arterial shunts, 442–448

ventricle/hemisphere ratio, 104, 360

ventricular septal defects, 439

   23-week fetus with: ultrasound, 440

   33-week fetus: left ventricular outflow tract: ultrasound, 440

   blood-flow diagram for heart with, 440

   left ventricular septal surface, 440

   subarterial, 440

   types illustrated, 439

ventriculomegaly

   abnormalities associated with, 105

   axial image, 105

   confirming, 104–105

   extra-CNS anomalies seen with, 360

   incidence with aneuploidy, 105, 360

   incidence with other anomalies, 360

   indicator of, 360

   pseudo-, 104

   syndromes associated with, 105, 360

   toxoplasmosis with, 360

vernix caseosa, 51, 166

vesicular lesions

   conditions with, in newborn, summary of, 588

   defined, 580–581

   fetal/neonatal, summary of, 581

viability, 18

villi, normal/abnormal, 14–15

villitis

   acute, 160

   chronic, 160–161

   defined, 160

   noninflammatory, 161

   of unknown etiology, 161

villous edema, nonhydropic, 159

villous hydrops, 165

viruses, elimination by newborns, 608

visceral leishmaniasis (kala-azar), 618

Vitamin A

   embryopathy from, 286–287

   toxicity, abnormalities from, 288

Vitamin D excess, abnormalities from, 288

Vitamin K deficiency, abnormalities from, 288

vitellointestinal duct remnants, 495–496

   types of, 495

volvulus in malrotation, 494

von Gierke disease, 646

Von Hippel-Lindau disease

   characteristics of, 260–261

   cystic kidney, 260, 529

   defined, 527

   epididymis, 260

   genetics of, 260–261

   inheritance in, 261

   manifestations by organ, 261

   pheochromocytoma in, 261

   renal cysts in, 260, 529

      microscopic appearance, 260, 529

von Recklinghausen disease. See neurofibromatosis

Vrolik disease, 411

Waardenburg syndrome, 436

Walker-Warburg syndrome, 355

Warfarin embryopathy, 289

   abnormalities in, 289

   illustration, 289

   infants with, 289, 290

   outline of, 289

   stippled calcifications of femurs, calcaneus, and iliac wings in, 422

weight, fetal

   8 to 26 weeks: mean values by week, 663

   estimating, 13

   estimations of, 138–139, 316–317

   placenta:fetal-weight ratio by age, 152

   see also birth weight, low

weight/length ratio, 318

weights and measurements

   8 to 26 weeks gestation, 663

   live-born infants, 666

   stillbirths, 665

weights, organ

   in relation to total body weight, 669

   of 9-to-20-week fetuses, 664–669

   of children, 668

widow’s peak, 292

Wiedemann-Beckwith syndrome

   adrenal cytomegaly in, 230

   algorithm for, 229

   clinical appearance, 230

   clinical manifestations of, 227–230, 270

   defined, 227

   earlobe cleft in, 230

   kidney, dysmorphogenetic: cut surface, 230

   pits on helix in, 230

Williams syndrome

   elfin face, anteverted nares, and everted lips in, 243

   etiology, 242, 450–451

   incidence of, 450

   incidence of cardiovascular malformations with, 436

   presentation findings, 242–243, 450

Wilson disease, 653–655

Wolman disease, 645

X-linked recessive chondrodysplasia punctata, 418

xeroderma pigmentosum, 597

yolk sac

   8th week: 3-D view, 145

   βHCG levels and existence of, 96

   initial identification of, 13

   sonography of, 144

   tumors of, 554–555

      ovarian, 555

      testicular, 554

yolk sac cavity, 4

Zellweger syndrome (cerebrohepatorenal syndrome)

   abnormalities: categorical summary, 251

   brain in

      pachygyria, 653

      pachygyria and lissencephaly, 250

   characteristics of, 249

   cortical cysts in newborn, 527

   defined, 526–527

   femur, distal: X-ray, 249

   hypotonia in infant, 249

   kidney in

      cystic, 250, 653

      multiple cortical cysts, 653

   liver in

      cirrhosis, and iron in Kupffer cells: microscopic view, 250

      cut surface of, 250

      iron deposition discoloration, 653

   tubular cysts: microscopic section, 527

   typical facial appearance, 249

zinc deficiency, 584

zona pellucida, 2–3

zygote, 1




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