Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0564-4
Abstract: PurposeNoninvasive 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… read more here.
Keywords: dmd gene; prenatal screening; copy number; maternal copy ... See more keywords
Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genomics"
DOI: 10.1186/s12920-018-0410-6
Abstract: BackgroundNoninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations. High specificity is needed for… read more here.
Keywords: maternal copy; false positives; copy number; number variants ... See more keywords