Fragile X Syndrome: Targeted or Universal Screening?

Dr. Chapa’s Clinical Pearls.

Fragile X Syndrome is the most common inherited form of intellectual disability, and the most common single gene cause of Autism Spectrum Disorder. It is also responsible for some cases of premature ovarian insufficiency. Do you recall the difference between a Fragile X “pre-mutation” versus the full mutation? Should we do universal screening for this as part of expanded maternal carrier testing, or should this be a targeted screening approach? Although we covered maternal carrier screening on November 4, 2022, this episode will go into much more detail, focusing specifically on Fragile X Syndrome and who should be screened for this. (For Emma…Great question! Thank you for reaching out to us).