Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- 1 Disseminated intravascular coagulation in obstetrics, pregnancy, and gynecology: Criteria for diagnosis and management
- 2 Recurrent miscarriage syndrome and infertility caused by blood coagulation protein/platelet defects
- 3 Von Willebrand disease and other bleeding disorders in obstetrics
- 4 Hemolytic disease of the fetus and newborn caused by ABO, Rhesus, and other blood group alloantibodies
- 5 Hereditary and acquired thrombophilia in pregnancy
- 6 Thromboprophylaxis and treatment of thrombosis in pregnancy
- 7 Diagnosis of deep vein thrombosis and pulmonary embolism in pregnancy
- 8 Hemorrhagic and thrombotic lesions of the placenta
- 9 Iron deficiency, folate, and vitamin B12 deficiency in pregnancy, obstetrics, and gynecology
- 10 Thrombosis prophylaxis and risk factors for thrombosis in gynecologic oncology
- 11 Low molecular weight heparins in pregnancy
- 12 Post partum hemorrhage: Prevention, diagnosis, and management
- 13 Hemoglobinopathies in pregnancy
- 14 Genetic counseling and prenatal diagnosis
- 15 Thrombocytopenia in pregnancy
- 16 Neonatal immune thrombocytopenias
- 17 The rational use of blood and its components in obstetrical and gynecological bleeding complications
- 18 Heparin-induced thrombocytopenia in pregnancy
- 19 Coagulation defects as a cause for menstrual disorders
- Index
- Plate section
- References
14 - Genetic counseling and prenatal diagnosis
Published online by Cambridge University Press: 01 February 2010
Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- 1 Disseminated intravascular coagulation in obstetrics, pregnancy, and gynecology: Criteria for diagnosis and management
- 2 Recurrent miscarriage syndrome and infertility caused by blood coagulation protein/platelet defects
- 3 Von Willebrand disease and other bleeding disorders in obstetrics
- 4 Hemolytic disease of the fetus and newborn caused by ABO, Rhesus, and other blood group alloantibodies
- 5 Hereditary and acquired thrombophilia in pregnancy
- 6 Thromboprophylaxis and treatment of thrombosis in pregnancy
- 7 Diagnosis of deep vein thrombosis and pulmonary embolism in pregnancy
- 8 Hemorrhagic and thrombotic lesions of the placenta
- 9 Iron deficiency, folate, and vitamin B12 deficiency in pregnancy, obstetrics, and gynecology
- 10 Thrombosis prophylaxis and risk factors for thrombosis in gynecologic oncology
- 11 Low molecular weight heparins in pregnancy
- 12 Post partum hemorrhage: Prevention, diagnosis, and management
- 13 Hemoglobinopathies in pregnancy
- 14 Genetic counseling and prenatal diagnosis
- 15 Thrombocytopenia in pregnancy
- 16 Neonatal immune thrombocytopenias
- 17 The rational use of blood and its components in obstetrical and gynecological bleeding complications
- 18 Heparin-induced thrombocytopenia in pregnancy
- 19 Coagulation defects as a cause for menstrual disorders
- Index
- Plate section
- References
Summary
The purpose of this chapter is to discuss genetic counseling and prenatal diagnosis as it pertains to hematological complications in obstetrics and gynecology. The reader should be aware that, as with any text in a rapidly advancing field, some issues discussed might be outdated or new testing may have become available by the time of publication.
Many of the hematological conditions discussed in this book are hereditary (Table 14.1) and the specific nature of each disorder is discussed in the relevant chapter. It is the responsibility of the practitioner to explain to his or her patient, when applicable, the genetic nature of their condition. The practitioner should point out the increased risk for family members to be similarly affected, and encourage the patient to share this information. In many instances, this can be accomplished in the office of the treating physician. However, when patients have additional questions or concerns or difficulty comprehending or dealing with the genetic information, or there is a question regarding genetic testing, referral to a professional genetic counselor is appropriate.
In this chapter, we will first discuss genetic counseling and prenatal diagnosis in general. This will be followed by a discussion about the specific management of the following conditions:
Thrombophilia
Hemophilia
Hemoglobinopathies
Von Willebrand disease
Rh isoimmunization
Genetic counselors and genetic counseling
The National Society of Genetic Counselors has about 2,000 members, as of 2003. A directory of genetic counselors is available at the website, www.nsgc.org.
Information
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- Chapter
- Information
- Publisher: Cambridge University PressPrint publication year: 2006
References
, , , et al. Recommendations for Standardized Human Pedigree Nomenclature. Am. J. Hum. Genet., 1995; 56: 745.Google ScholarPubMed
Ad Hoc Committee on Genetic Counseling. Genetic Counseling. Am. J. Hum. Genet., 1975; 27: 240.
Mendelian Inheritance in Man, 12th edn. Baltimore, MD: Johns Hopkins University Press; 1998.Google Scholar
Online Mendelian Inheritance in Man. Accessed August 25, 2003, at http://www.ncbi.nlm.nih.gov/omim.
Psychological aspects of genetic counseling. IX. Teaching and counseling. J. Genet. Counseling, 1997; 6: 287.CrossRefGoogle ScholarPubMed
, , , et al. Nondirectiveness in genetic counseling: An empirical study. Am. J. Hum. Genet., 1997; 60: 40.Google ScholarPubMed
Psychosocial genetic counseling in the post-nondirective era: A point of view. J. Genet. Counseling, 2003; 12: 199.CrossRefGoogle ScholarPubMed
American Society of Human Genetics/American College of Medical Genetics Report. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet., 1995; 57: 1233.
National Society of Genetic Counselors. Prenatal and Childhood Testing for Adult-Onset Disorders. Adopted 1995. Accessed August 25, 2003, at http://www.nsgc.org/newsroom/position.asp.
, , , et al. Gaucher disease: Gene frequencies in the Ashkenazi Jewish population. Am. J. Hum. Genet., 1993; 52: 85.Google ScholarPubMed
Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genet. Testing, 1997; 1: 5.Google ScholarPubMed
, , , et al. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genetics in Medicine, 2000; 2: 271.CrossRefGoogle ScholarPubMed
, , , et al. Cytogenetic results from the US Collaborative Study on CVS. Prenatal Diag., 1992; 12: 317.CrossRefGoogle Scholar
, , Antenatal diagnosis of haemoglobinopathies, haemophilia, von Willebrand's disease, Duchenne's muscular dystrophy, and chronic granulomatous disease by fetal blood analysis. Clin. Obstet. Gynaecol., 1980; 7: 41.Google ScholarPubMed
, , , et al. Prenatal diagnosis in type IIA von Willebrand disease. Nouv. Rev. Fr. Hematol., 1990; 32: 125.Google ScholarPubMed
, , Role of the geneticist in testing and counseling for inherited thrombophilia. Genetics in Medicine, 2003; 5: 133.CrossRefGoogle ScholarPubMed
College of American Pathologists Consensus Conference XXXVI: Diagnostic issues in thrombophilia. Arch. Pathol. Lab. Med., 2002; 126: 1277.Google Scholar
Genetic Information Nondiscrimination Act of 2003. Senate Bill 1053, May 13, 2003. Accessed November 11, 2003 at http://www.theorator.com/bills108/s1053.html.
Health Insurance Portability and Accountability Act of 1996, Public Law 104–191, US Statutes at Large 110 (1996).
, , , et al. Laboratory testing for thrombophilia in pediatric patients. On behalf of the Subcommittee for Perinatal and Pediatric Thrombosis of the Scientific and Standardization Committee of the International Society of Thrombosis and Haemostasis (ISTH). Thromb. Haemost., 2002; 88: 155.CrossRefGoogle Scholar
, , , et al. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet. Med., 2001; 3: 139.CrossRefGoogle ScholarPubMed
A simple, unified approach to Bayesian risk calculations. J. Genet. Counseling, 1998; 7: 235.CrossRefGoogle ScholarPubMed
GeneTests. Accessed September 10, 2003, at http://www.genetests.org/.
, , , et al. First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA, 1999; 281: 1701.CrossRefGoogle ScholarPubMed
, , , et al. Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. Prenat. Diagn., 1999; 19: 1217.3.0.CO;2-2>CrossRefGoogle ScholarPubMed
Steinberg, M. H. Compound heterozygous and other sickle hemoglobinopathies. In , , , et al., eds., Disorders of Hemoglobin. Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press; 2001. pp. 786–810.Google Scholar
Old, J. M. Prenatal diagnosis of the hemoglobinopathies. In , ed., Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment, 4th edn. Baltimore, MD: Johns Hopkins University Press; 1998. p. 583.Google Scholar
Bowman, J. M. Hemolytic disease (erythroblastosis fetalis). In , and , eds., Maternal Fetal Medicine, 4th edn. Philadelphia, PA: WB Saunders Co.; 1999, p. 737.Google Scholar
Bowman, J. M. Hemolytic disease (erythroblastosis fetalis). In , and , eds., Maternal Fetal Medicine, 4th edn. Philadelphia, PA: WB Saunders Co.; 1999, pp. 764–5.Google Scholar
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