Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication

Abstract Background With the development of whole-genome sequencing technology, non-invasive prenatal testing (NIPT) has been applied gradually to screen chromosomal microdeletions and microduplications that cannot be detected by traditional karyotyping. However, in NIPT, some false positives and fa...

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Bibliographic Details
Main Authors: Weifang Tian, Yangyang Yuan, Erfeng Yuan, Linlin Zhang, Ling Liu, Ying Li, Jing Guo, Xueyin Cui, Pengyun Li, Shihong Cui
Format: Article
Language:English
Published: BMC 2023-08-01
Series:European Journal of Medical Research
Subjects:
NIPT-PLUS
Chromosomal microarray analysis (CMA)
Rare chromosomal trisomy (RAT)
Sex chromosome aneuploidy (SCA)
Microdeletion/microduplication (MMS)
Online Access:https://doi.org/10.1186/s40001-023-01285-2

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https://doi.org/10.1186/s40001-023-01285-2

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