Mutational and gene expression profiles of early-onset preeclampsia

The role rare genetic mutations play in placental dysfunction leading to pregnancy complications is largely unexplored, creating opportunity to unravel the mechanisms of placental dysfunction and improve maternal-fetal health. We performed bulk RNA sequencing on 112 human placentas to investigate rare genetic variants and gene expression profiles associated with preeclampsia (PE), a leading cause of severe maternal morbidity and mortality. Placenta samples were subject to detailed clinical adjudication and histopathological review to be classified as PE or normal, early-onset (<34 weeks gestation) or late-onset (>34 weeks gestation), and by pathology category (Normal, MVM, FVM, Villitis).