Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening

Abstract

Aim: To determine the true prevalence of congenital heart disease (CHD) at live birth using echocardiographic screening.

Methods: A total of 5190 consecutive newborns from two secondary hospitals were included. Each neonate had a complete clinical evaluation with echocardiographic diagnosis at average 47 h of age. Newborns with persistent CHD underwent at least 4 months of follow-up, and the temporal trend of prevalence of mild CHD was assessed.

Results: Overall live birth prevalence of CHD was 26.6‰ (severe 3.5‰, moderate 5.4‰ and mild 17.7‰), and prevalence of CHD that could be detected by clinical evaluation was 12.1‰. The most common CHD was ventricular septal defect (VSD, 17.3‰), followed by atrial septal defect (ASD, 6.2‰), patent ductus arteriosus (PDA, 1.3‰), tetralogy of Fallot (TOF, 0.4‰), single ventricle (SV, 0.4‰), atrioventricular septal defect (AVSD, 0.2‰) and double outlet right ventricle (DORV, 0.2‰). Female predominance was observed in mild CHD (VSD, ASD), and male predominance was observed in severe CHD. The prevalence of CHD was reduced to 19.5‰ at the 4-month follow-up, which was largely caused by spontaneous closure rate of muscular VSD.

Conclusion: Prevalence of CHD determined by echocardiography screening was higher but more accurate than that obtained from birth defect registries.

Keywords: Congenital heart disease; Echocardiography; Newborn screening; Prevalence.