High false-positive non-invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?

Bin ZhangQin ZhouYingping ChenYe ShiFangxiu ZhengJianbing LiuBin Yu

Published in: Prenatal diagnosis (2019)

Approximately 25% of pregnant women with SCAs predicted by NIPS had sex chromosome abnormalities as determined by CNV-seq. The ratio of cffDNA (ChrX)/cffDNA can tentatively distinguish the maternal or foetal origin of abnormal cell-free DNA. In a reanalysis of previous NIPS data, false-positive results caused by maternal CNV might be elucidated.

Keyphrases

birth weight
pregnancy outcomes
pregnant women
gestational age
rna seq
single cell
big data
electronic health record
physical activity
dna methylation
deep learning