Fragile X syndrome carrier screening in the prenatal genetic counseling setting.
cross_sectional · Level IV
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- Record sourced from PubMed, PMID 15834242.
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Abstract
To document our experience with fragile X carrier screening. 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. Overall, 7.9% accepted carrier screening. The premutation frequency was 1 in 382, and the intermediate allele frequency was 1 in 143. Fragile X screening is a desirable option for some women seeking prenatal genetic counseling and should be made available to this population.
Medical subject headings
- Fragile X Syndrome
- Genetic Counseling
- Genetic Testing
- Nerve Tissue Proteins
- Patient Acceptance of Health Care
- RNA-Binding Proteins