Fragile X Screening

Dr. Lescale offers fragile X syndrome testing.

Fragile X Syndrome is a common cause of mental retardation. Fragile X syndrome is an inherited condition. However, most cases of Fragile X syndrome occur with no family history of mental retardation. Fragile X syndrome is found in all ethnic, social, and racial groups. Also children with Fragile X can be born to women of all ages.

The symptoms of Fragile X vary widely between individuals. Boys seem to have more pronounced symptoms. Behavioral difficulties associated with Fragile X syndrome include autism, hyperactivity, a short attention span, and poor eye contact.

Approximately 1 in 260 normal women carry the gene that causes Fragile X. It is rare for an intellectually normal man to carry the gene. With each pregnancy a carrier woman has a 50% chance of having an affected child.

Fragile X syndrome testing involves the analysis of a small sample of a woman’s blood. Results are usually available in 2 to 3 weeks. If the woman is found to be a carrier, she is offered Fragile X testing for their pregnancies. Testing for Fragile X syndrome is performed by Chorionic Villi Sampling (CVS) at 10-12 weeks or Amniocentesis at around 16 weeks.

 

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© 2018 Keith Lescale, M.D., F.A.C.O.G.