Congenital heart defects (CHD) are the most common form of major birth defect, affecting almost 1% of live births. These defects place a significant economic burden on the National Health Service and on the psychological wellbeing of affected families. The early screening and identification of neonates with CHD could reduce morbidity and mortality by allowing proactive medical treatment and parental counseling about options during pregnancy, including termination. Fetal echocardiography is the principal screening tool for the identification of CHD, but its accuracy mainly depends on the skill and experience of the operator. Various biomarkers of screening for fetal CHD are currently available, such as nuchal translucency (NT), β-hCG and PAPP-A; however, these are non-specific indexes with high incidences of false positive results. Certain specific microRNAs (miRNAs) of cardiogenesis have been identified, which correlate positively with placental miRNA expression. These miRNAs of placental origin can be detected in maternal peripheral blood. Therefore, we postulate that these maternal serum miRNAs may be a potential biomarker for fetal CHD.
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