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A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis.
- Source :
-
Clinical & Translational Medicine . May2024, Vol. 14 Issue 5, p1-6. 6p. - Publication Year :
- 2024
-
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. [Extracted from the article]
Details
- Language :
- English
- ISSN :
- 20011326
- Volume :
- 14
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Clinical & Translational Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 177482381
- Full Text :
- https://doi.org/10.1002/ctm2.1706