Fragile X syndrome carrier screening in the prenatal genetic counseling setting.
OBJECTIVE
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.
Cronister
Amy
A
Genetic Services and Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, Massachusetts, USA.
DiMaio
Miriam
M
Mahoney
Maurice J
MJ
Donnenfeld
Alan E
AE
Hallam
Stephanie
S
D000367:Age Factors; D015139:Blotting, Southern; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D005787:Gene Frequency; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000523:psychology* / Q000706:statistics & numerical data*; D006801:Humans; D016015:Logistic Models; D018811:Maternal Exposure; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010342:Patient Acceptance of Health Care; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human