母源性 DMD 基因拷贝数变异作为无创性产前筛查的次要发现。
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
机构信息
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Department of Human Genetics, KU Leuven, Leuven, Belgium.
出版信息
Genet Med. 2019 Dec;21(12):2774-2780. doi: 10.1038/s41436-019-0564-4. Epub 2019 Jun 14.
PURPOSE
Noninvasive prenatal screening (NIPS) using genome sequencing also reveals maternal copy-number variations (CNVs). Those CNVs can be clinically actionable or harmful to the fetus if inherited. CNVs in the DMD gene potentially causing dystrophinopathies are among the most commonly observed maternal CNVs. We present our experience with maternal DMD gene CNVs detected by NIPS.
METHODS
We analyzed the data of maternal CNVs detected in the DMD gene revealed by NIPS.
RESULTS
Of 26,123 NIPS analyses, 16 maternal CNVs in the DMD gene were detected (1/1632 pregnant women). Variant classification regarding pathogenicity and phenotypic severity was based on public databases, segregation analysis in the family, and prediction of the effect on the reading frame. Ten CNVs were classified as pathogenic, four as benign, and two remained unclassified.
CONCLUSION
NIPS leverages CNV screening in the general population of pregnant women. We implemented a strategy for the interpretation and the return of maternal CNVs in the DMD gene detected by NIPS.
目的
使用基因组测序的无创产前筛查（NIPS）也会揭示母体拷贝数变异（CNV）。如果这些 CNV 遗传给胎儿，可能具有临床可操作性或对胎儿有害。导致肌营养不良症的 DMD 基因中的 CNV 是最常见的母体 CNV 之一。我们介绍了通过 NIPS 检测到的母体 DMD 基因 CNV 的经验。
方法
我们分析了 NIPS 揭示的 DMD 基因中母体 CNV 的检测数据。
结果
在 26,123 次 NIPS 分析中，检测到 16 个 DMD 基因中的母体 CNV（1/1632 名孕妇）。关于致病性和表型严重程度的变体分类是基于公共数据库、家系中的分离分析以及对阅读框影响的预测。10 个 CNV 被归类为致病性，4 个为良性，2 个仍未分类。
结论
NIPS 利用了普通孕妇群体中的 CNV 筛查。我们实施了一种策略，用于解释和返回通过 NIPS 检测到的 DMD 基因中的母体 CNV。
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