Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing.

Dongyi YuKai ZhangMeiyan HanWei PanYing ChenYunfeng WangHongyan JiaoLing DuanQiying ZhuXiaojie SongYan HongChen ChenJuan WangFeng HuiLinzhou HuangChongjian ChenYang Du

Published in: Molecular genetics & genomic medicine (2019)

NIPSCCD showed a good performance in detecting fetal subchromosomal CNVs, especially for CNVs >10 Mb, and can be incorporated into the routine NIPT chromosomal aneuploidies screening with high sensitivity and specificity.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
pregnant women
clinical practice
structural basis