Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome

Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome

Abstract Non-invasive prenatal testing (NIPT) has been endorsed by the American College of Medical Genetics and Genomics as the preferred method for screening fetal 22q11.2 deletion syndrome (22q11.2 DS). Maternal genomic aberrations represent a significant source of false positives in NIPT, and the...

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Bibliographic Details
Main Authors: Jiale Xiang, Xiangzhong Sun, Jiguang Peng, Hongfu Zhang, Jiankun Shen, Jingrou Li, Hongyu Li, Lanping Hu, Jingjing Zhang, Shihao Zhou, Sihu Xu, Yun Yang, Jun He, Zhiyu Peng
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
NIPT
22q11.2 deletion syndrome
Maternal CNV
False positive
Positive predictive value
Online Access:https://doi.org/10.1038/s41598-025-10446-8
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