Genetic Disorders for Which Prenatal Diagnosis Is Available
¦ Tay-Sachs — a disease that causes fatal brain damage — is more common in people of Central and Eastern European Ashkenazi Jewish descent and in certain French-Canadian subpopulations. It occurs in about 1 in 3,600 infants born to members of these ethnic groups.
¦ Sickle-cell anemia — a blood disorder — is more common in African Americans and individuals of Mediterranean, Arab, and Asian Indian origin. Approximately 1 in 484 infants of African-American descent are born with the disorder.
¦ Thalassemia — a blood disorder — is more common in people of Mediterranean and Indian origin. Approximately 1 in 1,600 children born to these ethnic groups is affected by the disease.
If you belong to one of these ethnic groups, you may wish to consult with a genetic counselor to assess your risk of giving birth to a child with one of these diseases.
A genetic counselor will:
¦ provide you with the facts about a particular disease or condition, describe its probable course, and inform you about any available treatments;
¦ explain how a disease or condition is passed from one generation to the next;
¦ assess your chances of passing on a serious medical condition to your child;
¦ advise you whether carrier identification tests are available at genetic clinics within the United States or abroad to detect the types of diseases or conditions you’re most likely to pass on to your child;
¦ advise you whether prenatal diagnostic tests are available at genetic clinics within the United States or abroad to test for these particular diseases or conditions;
¦ let you know if preimplantation diagnosis is available for this disorder (that is, when in vitro fertilization produces several embryos, the one with the best DNA is chosen for implantation — a procedure that costs up to $20,000);
¦ put you in touch with other families who are dealing with similar conditions;
¦ refer you to health-care practitioners who specialize in a particular disease or disorder.
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