ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.
Tay-Sachs disease (TSD) is a severe progressive neurologic disease that causes death in early childhood. Carrier screening, should be offered before pregnancy to individuals and couples at high-risk, including those of Ashkenazi Jewish, French-Canadian, or Cajun descent and those with a family history consistent with TSD. If both partners are determined to be carriers of TSD, genetic counseling and prenatal diagnosis should be offered.
D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D008297:Male; D011247:Pregnancy; D018570:Risk Assessment; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics