Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Lianshu HanChao ChenFengyu GuoJun YeZhiyu PengWenjuan QiuYaoshen WangXiaoming WeiHuiwen ZhangLili LiangYu WangHuanhuan WangXing JiJun SunXuefan Gu

Published in: Prenatal diagnosis (2019)

This result has shown that haplotype-based NIPD of cblC deficiency has high concordant rate and indicated potential clinical utility as a pregnancy diagnosis method for high-risk carrier couples.

Keyphrases

pregnancy outcomes
replacement therapy
preterm birth
birth weight
pregnant women
human health
weight loss
climate change
gestational age
smoking cessation