Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.

Chen ZhaoHongyan ChaiQinghua ZhouJiadi WenUma M ReddyRama KasturyYonghui JiangWinifred MakAllen E BaleHui ZhangPeining Li

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

These results supported the clinical utility of ES for detecting monogenic etiology of pregnancy loss. The identification of disease-associated variants provided information for follow-up genetic counseling of recurrence risk and management of subsequent pregnancies. Discovery of novel variants could provide insight for underlying molecular mechanisms causing fetal death.

Keyphrases

copy number
preterm birth
pregnancy outcomes
genome wide
small molecule
dna methylation
gestational age
single cell
high throughput
pregnant women
smoking cessation
hiv testing
human immunodeficiency virus
hiv infected
men who have sex with men