Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

Abstract Background Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the...

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Hauptverfasser:	Yibo Chen, Qi Yu, Xiongying Mao, Wei Lei, Miaonan He, Wenbo Lu
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2019-11-01
Schriftenreihe:	Human Genomics
Schlagworte:	Noninvasive prenatal testing (NIPT) Chromosome aneuploidies Microdeletion/microduplication syndromes (MMS) Clinical features Positive predictive value (PPV)
Online-Zugang:	https://doi.org/10.1186/s40246-019-0250-2
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