Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants

Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants

Abstract Objective This study explores and discusses the possible factors affecting the positive predictive value (PPV) of non-invasive prenatal screening (NIPS) for the detection of fetal copy number variants (CNVs) in pregnant women. Methods NIPS was performed for 50,972 pregnant women and 212 cas...

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Bibliographic Details
Main Authors: Wenli Wang, Fengying Lu, Bin Zhang, Qin Zhou, Yingping Chen, Bin Yu
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Non-invasive prenatal screening
Copy number variants
Chromosome microarray analysis
Prenatal diagnosis
Positive predictive value
Online Access:https://doi.org/10.1186/s13023-022-02406-6

Internet

https://doi.org/10.1186/s13023-022-02406-6

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