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Am Fam Physician. 2006;73(8):1471-1472

The American College of Obstetricians and Gynecologists (ACOG) has released recommendations for screening for Tay-Sachs disease. The report was published in the October 2005 issue of Obstetrics & Gynecology.

ACOG recommends that persons of Ashkenazi Jewish, French-Canadian, or Cajun descent be offered a screening test before pregnancy, as should couples with a family history of the disease. If a person is determined to be a carrier for Tay-Sachs disease, his or her partner also should be offered screening. If the couple is already pregnant, both partners should be screened at the same time to ensure immediate results, and they should be informed of their options promptly. Genetic counseling and prenatal diagnosis should be offered if both partners are determined to be carriers.

Screening for carriers of Tay-Sachs disease can be done through molecular or biochemical analysis; biochemical analysis should be used when screening patients at less risk of being carriers. Pregnant women and women using oral contraceptives who were screened using biochemical analysis also should be screened using leukocyte testing. Any screening tests that return ambiguous or positive results should be confirmed by biochemical and DNA analyses for the most common mutations. These tests will identify patients who carry genes associated with mild disease or pseudodeficiency states, in which case a referral to a subspecialist in genetics can be beneficial.

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