Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases

Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases

BackgroundNon-invasive prenatal testing (NIPT) has demonstrated robust performance in detecting common trisomies and copy number variations. However, its clinical utility for rare chromosomal abnormalities (RCAs) remains controversial due to low positive predictive value (PPV).MethodsThis study retr...

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Main Authors: Haimei Qi, Haijun Chen, Zhuling Zhang, Jinhui Gan, Huifeng Liu, Xianping Yuan, Fuyu Luo, Junkun Chen, Shichun Shen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Molecular Biosciences
Subjects:
noninvasive prenatal testing
rare chromosomal abnormalities
positive predictive value
true fetal mosaicism
pregnancy outcomes
small-for-gestational-age
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2025.1645223/full
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https://www.frontiersin.org/articles/10.3389/fmolb.2025.1645223/full

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