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Prevention of Tay–Sachs disease

For Preventing Tay–Sachs disease, three main approaches have been used to prevent or reduce the incidence of Tay–Sachs disease in those who are at high risk:
  • Prenatal diagnosis. If both parents are identified as carriers, prenatal genetic testing can determine whether the fetus has inherited a defective copy of the gene from both parents. Couples may be willing to terminate the pregnancy, although abortion may raise ethical issues. Chorionic villus sampling (CVS), which can be performed after the 10th week of gestation, is the most common form of prenatal diagnosis. Both CVS and amniocentesis present developmental risks to the fetus that have to be balanced with the possible benefits, especially in cases where the carrier status of only one parent is known.
  • Preimplantation genetic diagnosis. By retrieving the mother's eggs for in vitro fertilization and conceiving a child outside the womb, it is possible to test the embryo prior to implantation. Only healthy embryos are selected for transfer into the mother's womb. In addition to Tay–Sachs disease, PGD has been used to prevent cystic fibrosis, sickle cell anemia, Huntington's disease, and other genetic disorders. However this method is expensive. It requires invasive medical technologies, and is beyond the financial means of most couples.

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