Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies

Abstract Background Expanded non-invasive prenatal testing (E-NIPT) extends traditional screening for trisomies 21, 18, and 13 to sex-chromosome aneuploidies (SCAs), rare autosomal aneuploidies (RAAs), and 92 pathogenic subchromosomal copy-number-variations (CNV) regions. However, the clinical perfo...

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Autori principali:	Feng Suo, Jingjing Wang, Mingming Liao, Yi Wang, Yan Zhang, Xingzi Lu, Lingshan Gou, Man Zhang, Qin Wu, Xin Yin, Xiaochan Li, Mingxing Sun, Liuyuan Wang, Maosheng Gu, Jinming Zhu
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2026-01-01
Serie:	Molecular Cytogenetics
Soggetti:	Expanded non-invasive prenatal testing Cell-free fetal DNA Chromosome aneuploidies Copy number variations Prenatal screening
Accesso online:	https://doi.org/10.1186/s13039-026-00747-6
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