Prenatal diagnosis refers to testing the fetus early in pregnancy. There are two different methods to evaluate the genetic status of the fetus: amniocentesis and chorionic villus sampling (CVS). They both use fluid and/or tissue that is made up of fetal cells and the fetal DNA is analyzed in the cells obtained from the procedure. These tests are commonly offered to women for other indications, like advanced maternal age (AMA) or a positive maternal screening test. It is not standard to analyze for Fragile X syndrome for these tests, The woman needs to specifically ask for it. However, screening the mother for the premutation for Fragile X is now occurring more often.
For more information:
- Fragile X Syndrome Testing and Diagnosis
- Fragile X Info Series: Fragile X Testing
- Reproductive Options
View the following session from the 17th NFXF International Fragile X Conference Virtual Series: Reproductive and Gynecologic Care for Women with the Fragile X Premutation