Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion.

ABSTRACT: Missed abortion (MA) refers to a pregnancy in which there is fetal demise without outside intervention, and additionally no uterine activity that may expel the product of conception (POC) prior to 20 weeks of gestation. Chromosomal abnormalities are the primary cause of MA and single gene defects in the POC may additionally be associated with MA; however, few studies have been conducted on the identification of mutations by whole‑exome sequencing. In the present study, 19 unrelated MA POCs were collected and whole‑exome sequencing was performed on the POC. Bioinformatics analysis was performed on sequence variants from a list of 286 selected candidate genes that were associated with early embryonic lethality and MA. A total of 36 sequence variants in 32 genes potentially associated with MA

SUBMITTER: Fu M 

PROVIDER: S-EPMC6072200 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature