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Chapter 18 - Fetal Gastrointestinal and Abdominal Abnormalities (Content last reviewed: 15th February 2018)

from Section 3 - Late Prenatal – Fetal Problems

Published online by Cambridge University Press:  15 November 2017

By
Peter Stone  and
Audrey Long
Edited by
David James ,
Philip Steer ,
Carl Weiner ,
Bernard Gonik  and
Stephen Robson
David James
Affiliation:
University of Nottingham
Philip Steer
Affiliation:
Imperial College London
Carl Weiner
Affiliation:
University of Kansas
Bernard Gonik
Affiliation:
Wayne State University, Detroit
Stephen Robson
Affiliation:
University of Newcastle
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Summary

Fetal gastrointestinal and abdominal wall malformations are easily visualized by ultrasound and may be detected either during a second-trimester scan for anomalies or by chance during an examination for an unrelated indication, such as the evaluation of poor fetal growth, abnormal amniotic fluid volume (usually polyhydramnios), or an increased maternal serum α-fetoprotein (MSAFP). Increasingly these abnormalities are being detected on late first-trimester scanning.

Type
Chapter
Information
High-Risk Pregnancy
Management Options
 , pp. 432 - 470
Publisher: Cambridge University Press
First published in: 2017

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References

Borsellino, A, Zaccara, A, Nahom, A, et al. False-positive rate in prenatal diagnosis of surgical anomalies. J Pediatr Surg 2006; 41: 826–9.CrossRefGoogle ScholarPubMed
Aite, L, Zaccara, A, Trucchi, A, et al. Parents’ informational needs at the birth of a baby with a surgically correctable anomaly Pediatr Surg Int 2006; 22: 267–70.Google Scholar
Stoll, C, Alembik, Y, Dott, B, Roth, MP. Omphalocele and gastroschisis and associated malformations. Am J Med Genet 2008; 146A: 1280–5.CrossRefGoogle ScholarPubMed
Cantrell, JR, Haller, JA, Ravitch, MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet 1958; 107: 602–4.Google Scholar
Brantberg, A, Blaas, HG, Haugen, SE, Eik-Nes, SH. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynecol 2005; 26: 27–37.CrossRefGoogle ScholarPubMed
Zidere, V, Allan, LD. Changing findings in pentalogy of Cantrell in fetal life. Ultrasound Obstet Gynecol 2008; 32: 835–7.Google Scholar
Biard, JM, Wilson, RD, Johnson, MP, et al. Prenatally diagnosed giant omphaloceles: short- and long-term outcomes. Prenat Diagn 2004; 24: 434–9.CrossRefGoogle ScholarPubMed
Kamata, S, Ishikawa, S, Usui, N, et al. Prenatal diagnosis of abdominal wall defects and their prognosis. J Pediatr Surg 1996; 31: 267–71.Google Scholar
Danzer, E, Gerdes, M, D’Agostino, JA, et al. Prospective, interdisciplinary follow-up of children with prenatally diagnosed giant omphalocele: short-term neurodevelopmental outcome. J Pediatr Surg.2010; 45: 718–23.Google Scholar
Partridge, EA, Hanna, BD, Panitch, HB, et al. Pulmonary hypertension in giant omphalocele infants. J Pediatr Surg 2014; 49: 1767–70.CrossRefGoogle ScholarPubMed
Montero, FJ, Simpson, LL, Brady, PC, Miller, RS. Fetal omphalocele ratios predict outcomes in prenatally diagnosed omphalocele. Am J Obstet Gynecol 2011; 205: 284.e1–7Google Scholar
Chapman-Sheath, P, Wilcox, D, Mok, Q, Drake, D. Iatrogenic ileal obstruction: a complication of umbilical cord clamping. BMJ 1996; 313: 613–14.Google Scholar
Sepulveda, W. Beware of the umbilical cord “cyst”. Ultrasound Obstet Gynecol 2003; 21: 213–14.Google Scholar
Wald, NJ, Cuckle, RS. Neural tube defects: screening and biochemical diagnosis. In Rodeck, CH, Nicolaides, KH (eds), Prenatal Diagnosis. Proceedings of the Eleventh Study Group of the Royal College of Obstetricians and Gynaecologists. London: Royal College of Obstetricians and Gynaecologists, 1983, p. 234.Google Scholar
Gibbin, C, Touch, S, Broth, RE, Berghella, V. Abdominal wall defects and congenital heart disease. Ultrasound Obstet Gynaecol 2003; 21: 334–7.CrossRefGoogle ScholarPubMed
Salihu, HM, Boos, R, Schmidt, W. Omphalocele and gastroschisis. J Obstet Gynaecol 2002; 22: 489–92.Google Scholar
Pandey, V, Gangopadhyay, AN, Gupta, DK, Sharma, SP, Kumar, V. Non-operative management of giant omphalocele with topical povidone-iodine and powdered antibiotic combination: early experience from a tertiary centre. Pediatr Surg Int 2014; 30: 407–11.Google Scholar
Kouame, BD, Odehouri, TH, Yaokreh, JB, et al. Outcomes of conservative treatment of giant omphaloceles with dissodic 2% aqueous eosin: 15 years’ experience. Afr J Paed Surg 2014; 11: 170–3.Google Scholar
Koivusalo, A, Lindahl, H, Rintala, RJ. Morbidity and quality of life in adult patients with a congenital abdominal wall defect: a questionnaire survey. J Pediatr Surg 2002; 37: 1594–601.Google Scholar
Suhr, M, Jennings, R, Miller, J, Ryan, K. Retrospective case study of team approach to omphalocele orthosis fabrication and implementation. Pediatr Phys Ther 2008; 20: 284–7.Google Scholar
Sipes, SL, Weiner, CP, Spies, DR, et al. Gastroschisis and omphalocele: Does either antenatal diagnosis or route of delivery make a difference in perinatal outcome? Obstet Gynecol 1990; 76: 195–9.Google Scholar
Moretti, M, Khoury, A, Rodriquez, J, et al. The effect of mode of delivery on the perinatal outcome in fetuses with abdominal wall defects. Am J Obstet Gynecol 1990; 163: 833–8.Google Scholar
Mitanchez, D, Walter-Nicolet, E, Humblot, A, et al. Neonatal care in patients with giant ompholocele: arduous management but favorable outcomes. J Pediatr Surg 2010; 45: 1727–33.CrossRefGoogle ScholarPubMed
van Eijck, FC, Wijnen, RM, van Goor, H. The incidence and morbidity of adhesions after treatment of neonates with gastroschisis and omphalocele: a 30-year review. J Pediatr Surg 2008; 43: 479–83.Google Scholar
Baird, PA, MacDonald, EL. An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. Am J Hum Genet 1981; 33: 470–8.Google ScholarPubMed
Canfield, MA, Collins, JS, Botto, LD, et al. Changes in the Birth Prevalence of Selected Birth Defects after grain fortification with folic acid in the United States: Findings from a multi-state population based study. Birth Defects Research (Part A) 2005; 73: 679–89.CrossRefGoogle ScholarPubMed
Mills, JL, Carter, TC, Kay, DM, et al. Folate and vitamin B12-related genes and risk for omphalocele. Hum Genet 2012; 131: 739–46CrossRefGoogle ScholarPubMed
Gamba, P, Midrio, P. Abdominal wall defects: prenatal diagnosis, newborn management, and long-term outcomes. Semin Pediatr Surg 2014; 23: 283–90.CrossRefGoogle ScholarPubMed
Suver, D, Lee, SL, Shekherdimian, S, Kim, SS. Left sided gastroschisis: higher incidence of extraintestinal congenital anomalies. Am J Surgery 2008; 195: 663–6.CrossRefGoogle ScholarPubMed
Chen, XK, Wen, SW, Fleming, N, Yang, Q, Walker, MC. Teenage pregnancy and congenital anomalies: which system is vulnerable? Hum Reprod 2007; 22: 1730–5.CrossRefGoogle ScholarPubMed
Rasmussen, SA, Frias, JL. Non-genetic risk factors for gastroschisis. Am J Med Genet 2008 Part C; 148C: 199–212.CrossRefGoogle ScholarPubMed
Bargy, F, Beaudoin, S. Comprehensive developmental mechanisms in gastroschisis. Fetal Diagn Ther 2014; 36: 223–30.Google Scholar
Lubinsky, M. A vascular and thrombotic model of gastroschisis. Am J Med Genet 2014; 164A: 915–17.Google Scholar
David, AL, Holloway, A, Thomasson, L, et al. A case–control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis. PLoS ONE 2014; 9: e111038. doi: 10.1371/journal.pone.0111038.CrossRefGoogle ScholarPubMed
Mastroiacovo, P, Lisi, A, Castilla, EE, et al. Gastroschisis and associated defects: An international study. Am J Med Genet 2007; Part A 143A: 660–71.Google Scholar
Arnold, MA Chang, DC, Nabaweesia, R, et al. Risk stratification of 4344 patients with gastroschisis into simple and complex categories. J Pediatr Surg 2007; 42: 1520–5.Google Scholar
Long, A-M, Court, J, Morabito, A, Gillham, JC. Antenatal diagnosis of bowel dilatation in gastroschisis is predictive of poor postnatal outcome. J Pediat Surg 2011; 46: 1070–5.Google Scholar
Goetzinger, KR, Tuuli, MG, Longman, RE, et al. Sonographic predictors of postnatal bowel atresia in fetal gastroschisis. Ultrasound Obstet Gynecol 2014; 43: 420–5.Google Scholar
Overcash, RT, DeUgarte, DA, Stephenson, ML, et al.; University of California Fetal Consortium. Factors associated with gastroschisis outcomes. Obstet Gynecol 2014; 124: 551–7.Google Scholar
Nichol, P F, Hayman, A, Pryde, PG, Go, LL, Lund, DP. Meconium staining of amniotic fluid correlates with intestinal peel formation in gastroschisis. Pediatr Surg Int 2004; 20: 211–14.Google Scholar
Brown, N, Nardi, M, Greer, RM, et al. Prenatal extra-abdominal bowel dilatation is a risk factor for intrapartum fetal compromise for fetuses with gastroschisis. Prenat Diagn 2015; 35: 529–33.Google Scholar
South, AP, Marshall, DD, Bose, CL Laughon, MM. Growth and neurodevelopment at 16 to 24 months of age for infants born with gastroschisis. J Perinatol 2008; 28: 702–6.Google Scholar
Adams, SR, Durfee, S, Pettigrew, C, et al. Accuracy of sonography to predict estimated weight in fetuses with gastroschisis. J Ultrasound Med 2012; 31: 1753–8.Google Scholar
Japaraj, RP, Hockey, R, Chan, FY: Gastroschisis: can prenatal sonography predict neonatal outcome? Ultrasound Obstet Gynecol 2003; 21: 329–33.Google Scholar
Morrison, JJ, Klein, N, Chitty, LS, et al. Intra-amniotic inflammation in human gastroschisis: Possible aetiology of postnatal bowel dysfunction. BJOG 1998; 105: 1200–4.Google Scholar
Deans, KJ, Mooney, DP, Meyer, MM, Shorter, NA. Prolonged exposure to amniotic fluid does not result in peel formation in gastroschisis. J Pediatr Surg 1999; 34: 975–76.Google Scholar
Gamba, P, Midrio, P. Abdominal wall defects: prenatal diagnosis,newborn management and long-term outcomes. Semin Pediatr Surg 2014; 23: 283–90.Google Scholar
Sipes, SL, Weiner, CP, Williamson, RA, et al. Fetal gastroschisis complicated by bowel dilation: An indication for imminent delivery? Fetal Diagn Ther 1990; 5: 100–3.Google Scholar
Carnaghan, H, Pereira, S, James, CP, et al. Is early delivery beneficial in gastroschisis? J Pediat Surg 2014; 49: 928–33.Google Scholar
Baud, D Lausman, A, Alfaraj, MA, et al. Expectant management compared with elective delivery at 37 weeks for gastroschisis. Obstet Gynecol 2013; 121: 990–8.Google Scholar
Huang, J, Kurkchubasche, AG, Carr, SR, et al. Benefits of term delivery in infants with antenatally diagnosed gastroschisis. Obstet Gynecol 2002; 100: 695–9.Google Scholar
Harper, LM, Goetzinger, KR, Biggio, JR, Macones, GA. Timing of elective delivery in gastroschisis: a decision and cost-effectiveness analysis. Ultrasound Obstet Gynecol 2015; 46: 227–32.Google Scholar
South, AP, Stutey, KM, Meinzen-Derr, J. Metaanalysis of the prevalence of intrauterine fetal death in gastroschisis. Am J Obstet Gynecol 2013; 209: 114.e1–13.Google Scholar
Nasr, A, Langer, JC; Canadian Paediatric Surgery Network. Influence of location of delivery on outcome in neonates with gastroschisis. J Pediatr Surg 2012; 47: 2022–5.Google Scholar
Harris, EL, Minutillo, C, Hart, S, et al. The long term physical consequences of gastroschisis. J Pediatr Surg 2014; 49: 1466–70.Google Scholar
Abdel-Latif, ME, Bolisetty, S, Abeywardana, S, Lui, K; Australian and New Zealand Neonatal Network. Mode of delivery and neonatal survival of infants with gastroschisis in Australia and New Zealand. J Pediatr Surg. 2008; 43: 1685–90.Google Scholar
Leadbeater, K, Kumar, R, Feltrin, R. Ward reduction of gastroschisis: risk stratification helps optimize the outcome. Pediatr Surg Int 2010; 26: 1001–5.Google Scholar
Choi, WW, McBride, CA, Bourke, C, et al. Long-term review of sutureless ward reduction in neonates with gastroschisis in the neonatal unit. J Pediatr Surg 2012; 47: 1516–20.Google Scholar
Weinsheimera, RL, Yanchara, NL, Bouchard, SB, et al.; Canadian Pediatric Surgery Network. Gastroschisis closure: does method really matter? J Pediatr Surg 2008; 43: 874–8.Google Scholar
Shah, R, Woolley, MM. Gastroschisis and intestinal atresia. J Pediatr Surg 1991; 26: 788–90.Google Scholar
Mian, SI, Dutta, S, Le, B, et al. Factors affecting survival to intestinal transplantation in the very young pediatric patient. Transplantation 2008; 85: 1287–9.Google Scholar
Kohl, M, Wiesel, A, Schier, F. Familial recurrence of gastroschisis: literature review and data from the population-based birth registry. J Pediatr Surg 2010; 45: 1907–12.Google Scholar
Bollmann, R, Kalache, K, Mau, H, Chaoui, R, Tennstedt, C. Associated malformations and chromosomal defects in congenital diaphragmatic hernia. Fetal Diagn Ther 1995; 10: 52–9.Google Scholar
Slavotinek, AM. The genetics of common disorders. Congenital diaphragmatic hernia. Eur J Med Genet 2014; 57: 418–23.Google Scholar
Fryns, JP, Moerman, F, Goddeeris, P, Bossuyt, C, Van den Berghe, H. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 1979; 50: 65–70.Google Scholar
Bargy, F, Beaudoin, S Bardet, P. Fetal lung growth in congenital diaphragmatic hernia. Fetal Diagn Ther 2006; 21: 39–44.Google Scholar
Peetsold, MG, Heij, HA, Kneepkens, CM, et al. The long-term follow-up of patients with a congenital diaphragmatic hernia: a broad spectrum of morbidity. Pediatr Surg Int 2009; 25: 1–17.Google Scholar
Garne, E, Haeusler, M, Barisic, I, et al.; Euroscan Study Group. Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound Obstet Gynecol 2002; 19: 329–33.Google Scholar
Boyd, PA, Tonks, AM, Rankin, J, et al.; BINOCAR Working Group. Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. J Med Screen 2011; 18: 2–7.Google Scholar
Colvin, J, Bower, C, Dickinson, JE, Sokol, J. Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics 2005; 116 356–63.Google Scholar
Snijders, RJM, Nicolaides, KH. Ultrasound Markers for Fetal Chromosomal Defects. London: Parthenon, 1996, p. 28.Google Scholar
Danzer, E, Hedrick, HL. Controversies in the management of severe congenital diaphragmatic hernia. Semin Fetal Neonat Med 2014; 19: 376–84.Google Scholar
Skari, H, Bjornland, K, Frenckner, B, et al. Congenital diaphragmatic hernia in Scandinavia from 1995 to 1998: predictors of mortality. J Pediatr Surg 2002; 37: 1269–75.Google Scholar
Screenan, C, Etches, P, Osiovich, H. The western Canadian experience with congenital diaphragmatic hernia: perinatal factors predictive of extracorporeal membrane oxygenation and death. Pediatr Surg Int 2001; 17: 196–200.Google Scholar
Shanafey, S, Giacomantonio, M, Henteleff, H. Congenital diaphragmatic hernia: experience without extracorporeal membrane oxygenation. Pediatr Surg 2002; 18: 28–31.Google Scholar
Partridge, EA, Peranteau, W. H, Rintoul, NE, et al. Timing of repair of congenital diaphragmatic hernia in patients supported by extracorporeal membrane oxygenation (ECMO). J Pediatr Surg 2015; 50: 260–2.Google Scholar
Benachi, A, Cordier, AG, Cannie, M, Jani, J. Advances in prenatal diagnosis of congenital diaphragmatic hernia. Semin Fetal Neonat Med 2014; 19: 331–7.Google Scholar
Cordier, AG, Jani, JC, Cannie, MM, et al. Stomach position in the prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion. Ultrasound Obstet Gynecol 2015; 46: 155–61.Google Scholar
Metkus, AP, Filly, RA, Stringer, MD, et al. Sonographic predictors of survival in fetal diaphragmatic hernia. J Pediatr Surg 1996; 31: 148–51.Google Scholar
Jani, J Cannie, M, Sonigo, P, et al. Value of prenatal magnetic resonance imaging in the prediction of postnatal outcome in fetuses with diaphragmatic hernia. Ultrasound Obstet Gynecol 2008; 32: 793–9.Google Scholar
Bebbington, M, Victoria, T, Danzer, E, et al. Comparison of ultrasound and magnetic resonance imaging parameters in predicting survival in isolated left-sided congenital diaphragmatic hernia. Ultrasound Obstet Gynecol 2014; 43: 670–4.Google Scholar
DeKoninck, P, Gomez, O, Sandaite, I, et al. Right-sided congenital diaphragmatic hernia in a decade of fetal surgery. BJOG 2015; 122: 940–6.CrossRefGoogle Scholar
Deprest, J, Brady, P, Nicolaides, K, et al. Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial. Semin Fetal Neonatal Med 2014; 19: 338–48.Google Scholar
Patridge, EA, Peranteau, WH, Rintoul, NE, Herkert, LM, Flake, AW. Timing of repair of congenital diaphragmatic hernia in patients supported by extracorporeal membrane oxygenation (ECMO). J Pediatr Surg 2015; 50: 260–2.Google Scholar
Tracy, S, Chen, C. Multidisciplinary long-term follow-up of congenital diaphragmatic hernia: a growing trend. Semin Fetal Neonat Med 2014; 19: 385–91.Google Scholar
Hunter, AGW, Seaver, LH, Stevenson, RE. Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet 2011; 155: 2045–59.Google Scholar
Smrcek, JM, Germer, U, Krokowski, M, et al. Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies. Ultrasound Obstet Gynecol 2003; 21: 322–8.Google Scholar
Martinez-Frias, ML, Bermejo, E, Rodriquez-Pinilla, E, Frias, JL. Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. Am J Med Genet 2001; 99: 261–9.CrossRefGoogle ScholarPubMed
Carey, JC, Greenbaum, B, Hall, BD. The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Orig Artic Ser 1978; 14: 253–63.Google Scholar
Austin, PF, Homsy, YL, Gearhart, JP, et al. The prenatal diagnosis of cloacal exstrophy. J Urol 1998; 160: 1179–81.Google Scholar
Goto, S, Suzumori, N, Obayashi, S, et al. Prenatal findings of omphalocele–exstrophy of the bladder–imperforate anus–spinal defects (OEIS) complex. Congenit Anom (Kyoto) 2012; 52: 179–81.Google Scholar
Gargollo, PC, Borer, JG Contemporary outcomes in bladder exstrophy. Curr Opin Urol 2007; 17: 272–80.Google Scholar
Park, W, Zwink, N, Rösch, WH, et al. Sexual function in adult patients with classic bladder exstrophy: a multicenter study. J Pediatr Urol. 2015; 11: 125.e1–6.Google Scholar
Gargollo, P, Borer, J, Diamond, D, et al. Prospective follow up in patients after complete primary repair of bladder exstrophy. J Urol 2008; 180: 1665–70.CrossRefGoogle Scholar
Tiblad, E, Wilson, D Carr, M, Flake, AW, Hedrick, H. OEIS sequence: a rare congenital anomaly with prenatal evaluation and postnatal outcome in six cases. Prenat Diagn 2008; 28: 141–7.Google Scholar
Vlangos, CN, Siuniak, A, Ackley, T, et al. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication. Am J Med Genet A 2011; 155A: 38–49.Google Scholar
Shaw-Smith, C. Oesophageal atresia, tracheooesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet 2006; 43: 545–54.Google Scholar
Spaggiari, E, Faure, G, Rousseau, V, et al. Performance of prenatal diagnosis in esophageal atresia. Prenat Diagn 2015; 8. doi: 10.1002/pd.4630.Google Scholar
Kunisaki, SM, Bruch, SW, Hirschl, RB, et al. The diagnosis of fetal esophageal atresia and its implications on perinatal outcome. Pediatr Surg Int 2014; 30: 971–7.Google Scholar
Garabedian, C, Verpillat, P, Czerkiewicz, I, et al. Does a combination of ultrasound, MRI, and biochemical amniotic fluid analysis improve prenatal diagnosis of esophageal atresia? Prenat Diagn 2014, 34, 839–42.Google Scholar
Shulman, A, Mazkereth, R, Zalel, Y, et al. Prenatal identification of esophageal atresia: The role of ultrasonography for evaluation of functional anatomy. Prenat Diagn 2002; 22: 669–74.Google Scholar
Gross, RE. Atresia of the oesophagus. In Gross, RE (ed.), Surgery of Infancy and Childhood. Philadelphia, PA: Saunders, 1952, p. 75.Google Scholar
Kaufman, RL, Quinton, BA, Ternberg, JL. Imperforate anus, vertebral anomalies and preaxial limb abnormalities. Birth Defects Orig Art Ser 1972; 8: 85–7.Google Scholar
Debost-Legrand, A, Goumy, C, Laurichesse-Delmas, H, et al. Prenatal diagnosis of the VACTERL association using routine ultrasound examination. Birth Defects Res A Clin Mol Teratol 2015; 103: 880–6.Google Scholar
Carli, D, Garagnani, L, Lando, M, et al. VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement. J Pediatr 2014; 164: 458–62.Google Scholar
Jones, KL. Di George sequence. In Smith’s Recognizable Patterns of Human Malformation, 4th edn. Philadelphia, PA: Saunders, 1988, p. 556.Google Scholar
Burge, DM, Shah, K, Spark, P, et al. Contemporary management and outcomes for infants born with oesophageal atresia. Br J Surg 2013; 100: 515–21.Google Scholar
Tomaselli, V, Volpi, ML, Dell’Agnola, CA, et al. Long term evaluation of esophageal function inpatients treated at birth for esophageal atresia. Ped Surg Int 2003; 19: 40–3.Google Scholar
Upadhyaya, VD, Gangopadhyaya, AN, Gupta, DK, et al. Prognosis of congenital tracheoesophageal fistula with esophageal atresia on the basis of gap length. Pediatr Surg Int 2007; 23: 767–71.Google Scholar
Spitz, L, Kiely, FM, Morecroft, JA, Drake, DP. Oesophageal atresia: at risk groups for the 1990s. J Pediatr Surg 1994; 29: 723–5.Google Scholar
Pinheiro, PFM, Simões e Silva, AC, Pereira, RM. Current knowledge on esophageal atresia. World J Gastroenterol 2012; 18: 3662–72.Google Scholar
Kimble, RM, Harding, J, Kolbe, A. Additional congenital anomalies in babies with gut atresia or stenosis: When to investigate and which investigation. Pediatr Surg Int 1997; 12: 565–70.Google Scholar
Farmakis, SG, Herman, TE, Siegel, MJ. Congenital pyloric atresia, type B; with junctional epidermolysis bullosa. J Perinatol 2014; 34: 572–3.Google Scholar
Nicolaides, KH, Snijders, RJM, Cheng, HH, Gosden, Cl. Fetal gastrointestinal and abdominal wall defects: associated malformations and chromosomal abnormalities. Fetal Diagn Ther 1992; 7: 102–15.Google Scholar
Dalla Vecchia, LK, Grosfeld, JL, West, KW, et al. Intestinal atresia and stenosis: A 25-year experience with 277 cases. Arch Surg 1998; 133: 490–6.Google Scholar
Escobar, MA, Ladd, AP, Grosfeld, JL, et al. Duodenal atresia and stenosis: Long term follow up over 30 years. J Ped Surg 2004; 39: 867–71.Google Scholar
Burjonrappa, S, Crete, E, Bouchard, S. Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis. Pediatr Surg Int 2011: 27: 437–42.Google Scholar
Virgone, C, D’Antonio, F, Khalil, A, et al. Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 523–9.Google Scholar
Seashore, JH, Collins, FS, Markowitz, RI, Seashore, MR. Familial apple peel jejunal atresia: Surgical, genetic and radiographic aspects. Pediatrics 1987; 80: 540–4.Google Scholar
Wax, JR, Hamilton, T, Cartin, A, et al. Congenital jejunal and ileal atresia natural prenatal sonographic history and association with neonatal outcome. J Ultrasound Med 2006; 25: 337–42.Google Scholar
Nyberg, DA, Mack, LA, Patten, RM, Cyr, DR. Fetal bowel: normal sonographic findings. J Ultrasound Med 1987; 6: 3–6.Google Scholar
Rintala, RJ, Pakarinen, MP. Imperforate anus: long- and short-term outcome. Semin Pediatr Surg 2008; 17: 79–89.Google Scholar
Hamid, CH, Holland, AJA, Martin, CO. Long-term outcome of anorectal malformations: the patient perspective. Pediatr Surg Int 2007; 23: 97–102.Google Scholar
Brantberg, A, Blaas, HGK, Haugen, SE, Isaksen, CV, Eik-Nes, SH. Imperforate anus: a relatively common anomaly rarely diagnosed antenatally. Ultrasound Obstet Gynecol 2006; 28: 904–10.Google Scholar
Clements, MB, Chalmers, DJ, Meyers, ML, Vemulakonda, VM. Prenatal diagnosis of cloacal exstrophy: a case report and review of the literature. Urology 2014; 83: 1162–4.Google Scholar
Simon-Bouy, B, Satre, V, Ferec, C, et al. Hyperechogenic fetal bowel: a large French collaborative study of 682 cases. Am J Med Genet 2003; 121A: 209–13.Google Scholar
Scotet, V, Dugueperoux, I, Audrezet, MP, et al. Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol 2010; 203: 592.e1–6.Google Scholar
Ruiz, MJ, Thatch, KA, Fisher, JC, Simpson, LL, Cowles, RA. Neonatal outcomes associated with intestinal abnormalities diagnosed by fetal ultrasound. J Pediatr Surg 2009; 44: 71–4.Google Scholar
Nama, SH, Kima, SC, Kima, DY, et al. Experience with meconium peritonitis. J Pediatr Surg; 2007: 42: 1822–5.Google Scholar
Al-Kouatly, HB, Chasen, ST, Karam, AK, et al. Factors associated with fetal demise in fetal echogenic bowel. Am J Obstet Gynecol 2001; 185: 1039–43.Google Scholar
Isaacs, H. Fetal and neonatal hepatic tumors. JPediatr Surg 2007; 42: 1797–803.Google Scholar
Tuzovic, L, Anyane-Yeboa, K, Mills, A, Glassberg, K, Miller, R. Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther 2014; 36: 74–80.Google Scholar
Richer, J, Milewicz, D, Gow, R, et al. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. Am J Med Genet 2012; 158A: 664–8.Google Scholar
Gosemann, J, Puri, P. Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int 2011; 27: 1041–6.Google Scholar
Raofi, V, Beatty, E, Testa, G, et al. Combined living related segmental liver and bowel transplantation for megacystis-microcolon-intestinal hypoperistalsis syndrome. J Ped Surg 2008; 43: E9–11.Google Scholar
Loinaz, C, Rodríguez, M, Kato, T, et al. Intestinal and multivisceral transplantation in children with severe gastrointestinal dysmotility. J Pediatr Surg 2005; 40: 1598–604.Google Scholar
McLaughlin, D, Puri, P. Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int 2013; 29: 947–51.Google Scholar
Zimmer, EZ, Bronshtein, M. Fetal intra-abdominal cysts detected in the first and early second trimester by transvaginal sonography. J Clin Ultrasound 1991; 19: 564–7.Google Scholar
Sepulveda, W, Dickens, K, Casabuenas, A, et al. Fetal abdominal cysts in the first trimester: prenatal detection and clinical significance. Ultrasound Obstet Gynecol 2008; 32: 860–4.Google Scholar
Charlesworth, P, Ade-Ajayi, N, Davenport, M. Natural history and long term follow up of antenatally detected liver cysts. J Pediatr Surg 2007; 42: 494–9.Google Scholar
de Sa, DJ. The alimentary tract. In Wigglesworth, JS, Singer, DB (eds), Textbook of Fetal and Perinatal Pathology. Cambridge, MA: Blackwell, 1991, p. 933.Google Scholar

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