Prenatal diagnosis uses a variety of techniques to determine the health of an unborn fetus.
Chorionic villus sampling (CVS) and
amniocentesis can determine if a fetus is affected by Tay-Sachs or an allied disease. Testing for Tay-Sachs and allied diseases is not part of standard prenatal testing, but is done when parents are known to be carriers.
Carrier screening done during pregnancy is stressful and sometimes less accurate for reasons explained above in the full section on Carrier Screening. NTSAD strongly encourages you to contact your doctor, obstetrician or genetic counselor prior to pregnancy to discuss your options.
It is very important to know your family's particular mutations because the majority of laboratories in the US offering
prenatal screening for Tay-Sachs and Sandhoff only offer DNA testing. NTSAD strongly encourages you to have both DNA and biochemical screening.
CVS and amniocentesis each have an inherent risk of miscarriage. Please discuss those risks with your obstetrician. Consider how the test results will help you prepare for the birth or end of the pregnancy before undergoing the procedure.
