Genetic counseling and prenatal diagnosis

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 The reader should be aware that, as with any text in a rapidly advancing field, some issues discussed might be outdated or new testing may have become available by the time of publication.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.