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14 - Genetic counseling and prenatal diagnosis

Published online by Cambridge University Press:  01 February 2010

By
Karen Heller M.S., C.G.C.  and
Robyn Horsager M.D.
Edited by
Rodger L. Bick ,
Eugene P. Frenkel ,
William F. Baker  and
Ravi Sarode
Karen Heller M.S., C.G.C.
Affiliation:
Faculty Associate Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Texas, USA
Robyn Horsager M.D.
Affiliation:
Associate Professor Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center at Dallas, Texas, USA
Rodger L. Bick
Affiliation:
University of Texas Southwestern Medical Center, Dallas
Eugene P. Frenkel
Affiliation:
University of Texas Southwestern Medical Center, Dallas
William F. Baker
Affiliation:
University of California, Los Angeles
Ravi Sarode
Affiliation:
University of Texas Southwestern Medical Center, Dallas
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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 The reader should be aware that, as with any text in a rapidly advancing field, some issues discussed might be outdated or new testing may have become available by the time of publication.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:

  1. Thrombophilia

  2. Hemophilia

  3. Hemoglobinopathies

  4. Von Willebrand disease

  5. 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.

Type
Chapter
Information
Hematological Complications in Obstetrics, Pregnancy, and Gynecology , pp. 469 - 489
Publisher: Cambridge University Press
Print publication year: 2006

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References

Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., 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.
McKusick, V.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.
Kessler, S.Psychological aspects of genetic counseling. IX. Teaching and counseling. J. Genet. Counseling, 1997; 6: 287.CrossRefGoogle ScholarPubMed
Michie, S., Bron, F., Bobrow, M., et al. Nondirectiveness in genetic counseling: An empirical study. Am. J. Hum. Genet., 1997; 60: 40.Google ScholarPubMed
Weil, J.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.
Beutler, E., Nguyen, N. J., Henneberger, M. W., et al. Gaucher disease: Gene frequencies in the Ashkenazi Jewish population. Am. J. Hum. Genet., 1993; 52: 85.Google ScholarPubMed
Grabowski, G. A.Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genet. Testing, 1997; 1: 5.Google ScholarPubMed
Burke, W., Imperatore, G., McDonnell, S. M., et al. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genetics in Medicine, 2000; 2: 271.CrossRefGoogle ScholarPubMed
Ledbetter, D. H., Zachary, J. M., Simpson, J. L., et al. Cytogenetic results from the US Collaborative Study on CVS. Prenatal Diag., 1992; 12: 317.CrossRefGoogle Scholar
DeVore, G. R., Mahoney, M. J., Hobbins, J. C.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
Rothschild, C., Foresteir, F., Daffos, F., et al. Prenatal diagnosis in type IIA von Willebrand disease. Nouv. Rev. Fr. Hematol., 1990; 32: 125.Google ScholarPubMed
Reich, L. M., Bower, M., Key, N. S.Role of the geneticist in testing and counseling for inherited thrombophilia. Genetics in Medicine, 2003; 5: 133.CrossRefGoogle ScholarPubMed
Olson, J. D.College of American Pathologists Consensus Conference XXXVI: Diagnostic issues in thrombophilia. Arch. Pathol. Lab. Med., 2002; 126: 1277.Google Scholar
Wertz, D. C.Genetic discrimination: an overblown fear. Nat. Rev. Gen., 2002; 3: 496.Google ScholarPubMed
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).
Manco-Johnson, M. J., Grabowski, E. F., Hellgreen, M., 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
Grody, W. W., Griffin, J. H., Taylor, A. K., et al. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet. Med., 2001; 3: 139.CrossRefGoogle ScholarPubMed
Hodge, S. E.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/.
Xu, K., Shi, Z. M., Veeck, L. L., et al. First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA, 1999; 281: 1701.CrossRefGoogle ScholarPubMed
Kanavakis, E., Vrettou, C., Palmer, G., 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 Steinberg, M. H., Forget, B. G., Higgs, D. R., 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 Milunsky, A., 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 Creasy, R. K., and Resnik, R., eds., Maternal Fetal Medicine, 4th edn. Philadelphia, PA: WB Saunders Co.; 1999, p. 737.Google Scholar
Bowman, J. M. Hemolytic disease (erythroblastosis fetalis). In Creasy, R. K., and Resnik, R., eds., Maternal Fetal Medicine, 4th edn. Philadelphia, PA: WB Saunders Co.; 1999, pp. 764–5.Google Scholar

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  • Genetic counseling and prenatal diagnosis
    • By Karen Heller, M.S., C.G.C., Faculty Associate Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Texas, USA, Robyn Horsager, M.D., Associate Professor Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center at Dallas, Texas, USA
  • Edited by Rodger L. Bick, University of Texas Southwestern Medical Center, Dallas, Eugene P. Frenkel, University of Texas Southwestern Medical Center, Dallas, William F. Baker, University of California, Los Angeles, Ravi Sarode, University of Texas Southwestern Medical Center, Dallas
  • Book: Hematological Complications in Obstetrics, Pregnancy, and Gynecology
  • Online publication: 01 February 2010
  • Chapter DOI: https://doi.org/10.1017/CBO9780511526978.015
Available formats
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To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

  • Genetic counseling and prenatal diagnosis
    • By Karen Heller, M.S., C.G.C., Faculty Associate Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Texas, USA, Robyn Horsager, M.D., Associate Professor Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center at Dallas, Texas, USA
  • Edited by Rodger L. Bick, University of Texas Southwestern Medical Center, Dallas, Eugene P. Frenkel, University of Texas Southwestern Medical Center, Dallas, William F. Baker, University of California, Los Angeles, Ravi Sarode, University of Texas Southwestern Medical Center, Dallas
  • Book: Hematological Complications in Obstetrics, Pregnancy, and Gynecology
  • Online publication: 01 February 2010
  • Chapter DOI: https://doi.org/10.1017/CBO9780511526978.015
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Genetic counseling and prenatal diagnosis
    • By Karen Heller, M.S., C.G.C., Faculty Associate Department of Pathology, University of Texas Southwestern Medical Center at Dallas, Texas, USA, Robyn Horsager, M.D., Associate Professor Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center at Dallas, Texas, USA
  • Edited by Rodger L. Bick, University of Texas Southwestern Medical Center, Dallas, Eugene P. Frenkel, University of Texas Southwestern Medical Center, Dallas, William F. Baker, University of California, Los Angeles, Ravi Sarode, University of Texas Southwestern Medical Center, Dallas
  • Book: Hematological Complications in Obstetrics, Pregnancy, and Gynecology
  • Online publication: 01 February 2010
  • Chapter DOI: https://doi.org/10.1017/CBO9780511526978.015
Available formats
×