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- Title
A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis.
- Authors
Wang, Yan; Sun, Yan; Meng, Lulu; He, Quanze; Zhao, Jingyu; Zhou, Ran; Wang, Zhonghua; Tan, Jianxin; Ma, Dingyuan; Fan, Linlin; Chen, Yunmei; Wang, Yuguo; Jiang, Zhu; Qiao, Zhihong; Wu, Xiaojuan; Shao, Binbin; Xue, Ying; Song, Lijie; Wang, Ting; Hu, Ping
- Abstract
This document summarizes a study on prenatal screening for copy number variants (CNVs) in the Duchenne muscular dystrophy (DMD) gene using non-invasive prenatal testing (NIPT) data. The study analyzed data from a large population of reproductive-age women in China and identified 33 different pathogenic/likely pathogenic maternal CNVs in the DMD gene. The study found that approximately 40% of offspring inherited true-positive maternal CNVs, and 1.63% of male offspring could potentially be prenatally diagnosed and managed using this method. The study provides important information for genetic counseling and DMD/BMD screening worldwide.
- Subjects
PRENATAL genetic testing; BECKER muscular dystrophy; COHORT analysis; DNA copy number variations; GENES
- Publication
Clinical & Translational Medicine, 2024, Vol 14, Issue 5, p1
- ISSN
2001-1326
- Publication type
Article
- DOI
10.1002/ctm2.1706