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

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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Bibliographic Details
Main Authors: Yibo Chen, Qi Yu, Xiongying Mao, Wei Lei, Miaonan He, Wenbo Lu
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Human Genomics
Subjects:
Noninvasive prenatal testing (NIPT)
Chromosome aneuploidies
Microdeletion/microduplication syndromes (MMS)
Clinical features
Positive predictive value (PPV)
Online Access:https://doi.org/10.1186/s40246-019-0250-2

Internet

https://doi.org/10.1186/s40246-019-0250-2

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