Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families.

ABSTRACT: We have previously shown an extensive load of somatic copy number variations (CNVs) in the human placental genome with the highest fraction detected in normal term pregnancies. Hereby, we hypothesized that insufficient promotion of CNVs may impair placental development and lead to recurrent pregnancy loss (RPL). RPL affects ~3% of couples aiming at childbirth and idiopathic RPL represents ~50% of cases. We analysed placental and parental CNV profiles of idiopathic RPL trios (mother-father-placenta) and duos (mother-placenta). Consistent with the hypothesis, the placental genomes of RPL cases exhibited 2-fold less CNVs compared to uncomplicated 1^st trimester pregnancies (P = 0.02). This difference mainly arose from lower number of duplications. Overall, 1^st trimester c

SUBMITTER: Kasak L 

PROVIDER: S-EPMC5366903 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature