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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Hlavní autoři:	Wenli Wang, Fengying Lu, Bin Zhang, Qin Zhou, Yingping Chen, Bin Yu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2022-07-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Non-invasive prenatal screening Copy number variants Chromosome microarray analysis Prenatal diagnosis Positive predictive value
On-line přístup:	https://doi.org/10.1186/s13023-022-02406-6
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