Maternal Plasma Micro-RNAs in Fetal Congenital Diaphragmatic Hernia: A Potential Non-Invasive Tool for Prenatal Diagnosis and Risk Stratification

Congenital diaphragmatic hernia (CDH) is characterized by a wide range of morbidity. Although imaging studies are used for CDH risk stratification, these modalities remain limited in their predictive and informational capacity. Distinct miRNA profiles have been found in other prenatally diagnosed conditions including Twin-Twin Transfusion Syndrome. Furthermore, it is differentially expressed in amniotic fluid from pregnancies with severe CDH suggesting utility in risk stratification. We hypothesized that patients carrying fetuses with CDH would display a unique miRNA profile detectable within maternal plasma that will be associated with both disease and severity.