Fragile X syndrome carrier screening in the prenatal genetic counseling setting

Purpose: To document our experience with fragile X carrier screening. Methods: In this study, 29,103 women with no known or suspected family history of fragile X syndrome were offered fragile X carrier screening during their prenatal genetic counseling visit. Screening acceptance was analyzed by referral indication, carrier frequencies documented, and prenatal outcome data presented. Results: Overall, 7.9% accepted carrier screening. The premutation frequency was 1 in 382, and the intermediate allele frequency was 1 in 143. Conclusions: Fragile X screening is a desirable option for some women seeking prenatal genetic counseling and should be made available to this population.