Fragile X syndrome carrier screening in the prenatal genetic counseling setting

被引：42
|
作者：
Cronister, A
DiMaio, M
Mahoney, MJ
Donnenfeld, AE
Hallam, S
机构：
[1] Genzyme Genet, Genet Serv, Westborough, MA USA
[2] Genzyme Genet, Mol Diagnost Lab, Westborough, MA USA
[3] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA
来源：
GENETICS IN MEDICINE | 2005年 / 7卷 / 04期
关键词：
fragile X syndrome; genetic screening; carrier testing; prenatal genetic counseling; FMR-1;
D O I：
10.1097/01.GIM.0000159898.90221.D3
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：246 / 250
页数：5
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