Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results

Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results

Abstract Background Non-invasive prenatal testing (NIPT) using cell-free DNA has been widely used for prenatal screening to detect the common fetal aneuploidies (such as trisomy 21, 18, and 13). NIPT has been shown to be highly sensitive and specific in previous studies, but false positives (FPs) an...

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Bibliographic Details
Main Authors: Qinfei Zhao, Jing Chen, Ling Ren, Huijuan Zhang, Dedong Liu, Xuxiang Xi, Xiangsheng Wu, Chunyun Fang, Ping Ye, Shaoying Zeng, Tianyu Zhong
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Molecular Cytogenetics
Subjects:
Non-invasive prenatal testing (NIPT)
Down syndrome
False negative
Placental mosaicism
21q;21q
Online Access:https://doi.org/10.1186/s13039-023-00643-3

Internet

https://doi.org/10.1186/s13039-023-00643-3

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