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 information, the Trosacks will benefit from a nutritionist or dietician. The nutritionist not only has special training in the area of nutrition, but also in educating patients about their options and making nutritious choices. In general, a nutritionist can “advise individuals…on the nutritional practices that will promote good health, [and] structure and recommend diet plans for whole families…including guides to the correct preparation of meals and shopping for the right foods (Princeton Review, n.d.). He will perform a nutrition assessment, provide education on additional nutritional needs due to pregnancy, and even assist with meal planning to ensure a health pregnancy. He will continue to assess and make recommendations on Mrs. Trosack’s nutritional needs based on lab work throughout the pregnancy. The patient’s overall care is the responsibility of her OB-GYN, who specializes in high-risk pregnancies. A high-risk OB-GYN has a lengthy education, residency and fellowship history to gain knowledge in caring for older patients, patients with specific medical conditions and patients carrying a pregnancy that has been determined to need specialized care. The perinatologist is not only capable of making diagnoses other obstetricians may miss, but can also perform specialized procedures and administer medications across the placenta ("Perinatologists," n.d.). She will assess the medical needs of Mrs. Trosack and the fetus throughout the pregnancy, monitor fetal growth and development, order diagnostic tests as needed, and provide referrals to other specialists as needed. Working with the physician will be a nurse specializing in prenatal clients. This nurse has chosen to expand on her nursing education, taking additional classes and obtaining certifications specific to perinatal care. He will assess the couple’s understanding of pregnancy and prenatal care at the first visit and make a plan to educate them on each stage of pregnancy and fetal development as...
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