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Genet Med. 2005 Apr;7(4):246-50.

Fragile X syndrome carrier screening in the prenatal genetic counseling setting.

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1
Genetic Services and Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, Massachusetts, USA.

Abstract

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.

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