Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests
Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests
复制标题
DOI：
10.1002/pd.1815
复制
发表时间：
2007-11-01
影响因子：
3
通讯作者：
Barkai, Gad
中科院分区：
文献类型：
--
作者：
Berkenstadt, Michal;Ries-Levavi, Liat;Barkai, Gad
目的探讨脆性X综合征（Fragile X syndrome，简称脆性X综合征）的携带率，以及脆性X综合征（Fragile X syndrome，简称脆性X综合征）前突变（Premutation，PM）携带者向全突变（Full mutation，简称FM）胎儿的扩展率。结果在40 079例受检妇女中，检出FM携带者5例，PM携带者255例。有与无精神发育迟滞或发育异常家族史的患者之间的携带者频率无显著差异：I在128（28/3596）与I在157（232/36483）。然而，重复次数的中位数差异显著：分别为58次和66次（P < 0.0001）。在370例妊娠中进行了侵入性产前诊断（7例FM和363例PM）。检测到30只FM胎仔。在没有家族史的病例中，扩增率较低：10%（17/169 PM），而在有家族史的病例中，扩增率为50%（11/22 PM），但这可以通过等位基因大小的差异来解释。I AA AA结论目前已有足够的脆性X综合征筛查参数和产前诊断信息，可为育龄妇女提供检测。版权所有（c）2007约翰威利父子有限公司。
Objectives To determine the carrier frequency of fragile X syndrome, and the rate of expansion from premutation (PM) carrier to full mutation (FM) fetus.Methods Results were analyzed on women with no family history of fragile X syndrome, or who were PM/FM carriers, who were tested between January 1994 and June 2004. PM was defined 55-199 repeats, FM above 200.Results Out of 40 079 women screened, 5 FM and 255 PM carriers were detected. There was no significant difference in carrier frequency between those with versus those without family history of mental retardation or developmental abnormalities: I in 128 (28/3596) versus I in 157 (232/36483). However, the median of repeats differed significantly: 58 and 66 repeats, respectively, (P < 0.0001). Invasive prenatal diagnosis was carried out in 370 pregnancies (7 FM and 363 PM). Thirty FM fetuses were detected. There was a lower expansion rate in cases without a family history: 10% (17/169 PMs) compared to 50% (11/22 PMs) in those with a history, but this could be accounted for by the difference in allele size. I AA AAConclusion There is now sufficient information on screening parameters and prenatal diagnosis of fragile X syndrome to offer testing to women of reproductive age. Copyright (c) 2007 John Wiley & Sons, Ltd.