The diagnosis for Tay- Sachs disease can be made through a blood test. The key is to focus on the Hex A enzyme. This is usually measured in the serum or white blood cells. Screenings for carriers within high-risk populations have significantly reduced the number of children born with TSD in these groups.Since screenings have been helpful to reduce the frequency of TSD, it is in the "unknown population" that we are seeing diagnoses of TSD.
Prenatal tests that can diagnose Tay-Sachs are available. These procedures are referred to as Amniocentesis and Chorionic Villus Sampling. Amniocentes sampling is performed between the 15th and 16th week of pregnancy. The procedure involves inserting a needle into the mother's abdomen and obtaining a sample of the fluid that surrounds the baby. In Chorionic Villus Sampling a sample of cells from the placenta is retrieved by the doctor during the 10th and 12th week of pregnancy, and tested for the presence of Hex A.
Information found at:
http://www.who.int/genomics/public/geneticdiseases/en/index2.html
https://www.google.com/search?
q=hex+a+gene&espv=2&biw=1366&bih=623&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiM8M6mjPbKAhVN_mMKHZR5BaUQ_AUIBigB#tbm=isch&q=tay+sachs+diagnosis&imgrc=-iqk_QkL3yCJ_M%3A
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