Identification of DNA methylation biomarkers in amniotic fluid for prenatal detection of congenital heart disease (CHD)

DNA methylation profiles in amniotic fluid differ significantly between fetuses with CHD and normal fetuses. The methylation of PCNT was suggested to be associated with the pathogenesis of CHD. Furthermore, the four-marker methylation panel identified in this study demonstrated decent efficacy in distinguishing fetuses with CHD, highlighting its promise as a new adjunctive diagnostic approach for prenatal CHD in high-risk pregnant women.