Prenatal screening for miRNAs in fetal diseases

Distinct miRNA expression patterns may reflect anomalies related to fetal malformations such as spinal bifida (SB) or congenital diaphragmatic hernia (CDH), which could shed light on novel pathomechanism determination and subsequent diagnostic significance evaluation. The aim of this study was to determine the miRNA maternal expression profile in plasma and amniotic fluid samples of women carrying fetuses with SB and CDH. Women carrying fetuses with SB, women carrying fetuses with CDH, and women with euploid healthy fetuses were enrolled for this study. miRNA profile in amniotic fluid and matched plasma samples was analyzed using NanoString miRNA assay.