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- Q7242383 subject Q8832541.
- Q7242383 abstract "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. Mate selection. In Orthodox Jewish circles, the organization Dor Yeshorim carries out an anonymous screening program so that couples who are likely to conceive a child with Tay–Sachs or another genetic disorder can avoid marriage. Nomi Stone of Dartmouth College describes this approach. "Orthodox Jewish high school students are given blood tests to determine if they have the Tay–Sachs gene. Instead of receiving direct results as to their carrier status, each person is given a six-digit identification number. Couples can call a hotline, if both are carriers, they will be deemed 'incompatible.' Individuals are not told they are carriers directly to avoid possibility of stigmatization or discrimination. If the information were released, carriers could potentially become unmarriageable within the community." Anonymous testing eliminates the stigma of carriership while decreasing the rate of homozygosity in this population. Stone notes that this approach, while effective within a confined population such as Hasidic or Orthodox Jews, may not be effective in the general population. 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.↑ ↑ ↑ ↑ 4.0 4.1 ↑".
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- Q7242383 wikiPageWikiLink Q8832541.
- Q7242383 comment "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.".
- Q7242383 label "Prevention of Tay–Sachs disease".