Association of assisted reproductive technology, germline de novo mutations and congenital heart defects in a prospective birth cohort study.

ABSTRACT: Emerging evidence suggests that children conceived through assisted reproductive technology (ART) have a higher risk of congenital heart defects (CHDs) even when there is no family history. De novo mutation (DNM) is a well-known cause of sporadic congenital diseases; however, whether ART procedures increase the number of germline DNM (gDNM) has not yet been well studied. Here, we performed whole-genome sequencing of 1137 individuals from 160 families conceived through ART and 205 families conceived spontaneously. Children conceived via ART carried 4.59 more gDNMs than children conceived spontaneously, including 3.32 paternal and 1.26 maternal DNMs, after correcting for parental age at conception, cigarette smoking, alcohol drinking, and exercise behaviors. Paternal DNMs in offspring concei

SUBMITTER: Wang C 

PROVIDER: S-EPMC8324888 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature