Prenatal Testing

Prenatal diagnosis (testing for the fragile X mutation in a baby before it is born) is available to any person shown to be a carrier of a fragile X mutation. Prenatal fragile X testing is usually performed on the developing baby using one of two methods: either chorionic villus sampling (CVS), performed at approximately 10 weeks of pregnancy: or amniocentesis, performed between 16-20 weeks of pregnancy. All couples considering prenatal diagnosis should meet with a genetic counselor before becoming pregnant in order to discuss the most current prenatal techniques, their limitations and benefits.

Brenda Finucane, M.S., C.G.C.
Elwyn Training and Research Institute
Elwyn, Pennsylvania