Genetic Testing and Counseling in Pregnancy

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Genetic Testing and Counseling in Pregnancy
For many women, pregnancy is met with excitement. However, for a few couples, the pregnancy can take a completely different turn when the fetus is determined to be afflicted with Tay-Sachs disease. This is a genetic condition, usually found in Caucasians, and primarily those of Jewish descent, and develops in 25% of cases when both parents carry the recessive gene (National Tay-Sachs and Allied Diseases [NTSAD], n.d.). Genetic counseling is a relatively new concept in healthcare and “is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” (National Society of Genetic Counselors [NSGC], 2005, para. 2). For the men and women facing a pregnancy involving Tay-Sachs, genetic counseling is a viable and important option to consider. However, to ensure quality care and education, genetic counseling needs to involve a team of healthcare professionals from a variety of backgrounds. Interdisciplinary Team Members and Their Roles in Genetic Counseling Appropriate members of a multi-disciplinary team for the Trosacks include a genetic counselor, a nutritionist or dietician, the high-risk OB-GYN physician, a registered nurse specializing in high-risk perinatal care, and a therapist specializing in marriage and family therapy needs. Each member of this team will add a unique perspective to the Trosack’s case. The genetic counselor has graduate-level education and experience in both medical genetics and counseling (NSGC, 2005, para. 1). Using her expertise and skills, she will review the medical history for Mr. and Mrs. Trosack, and their families, identify other genetic risks that may exist and explain inheritance patterns. She will provide information and resources for further education on genetic disorders, so that they can continue to learn about Tay-Sachs and connect with other families facing the disease. In addition to this expert...
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