Fragile X syndrome carrier screening in the prenatal genetic counseling setting
Fragile X syndrome carrier screening in the prenatal genetic counseling setting
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DOI：
10.1097/01.gim.0000159898.90221.d3
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发表时间：
2005-04-01
影响因子：
8.8
通讯作者：
Hallam, S
中科院分区：
文献类型：
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作者：
Cronister, A;DiMaio, M;Hallam, S
目的：记录我们在脆性X染色体携带者筛查方面的经验。研究方法：在这项研究中，29，103名没有已知或疑似脆性X综合征家族史的妇女在产前遗传咨询访视期间接受了脆性X携带者筛查。通过转诊指征、记录的携带者频率和提供的产前结局数据分析筛查接受度。结果：总的来说，7.9%的人接受了携带者筛查。前突变频率为1/382，中间等位基因频率为1/143。结论：脆性X染色体筛查是一个理想的选择，一些妇女寻求产前遗传咨询，并应提供给这一人群。
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.