How effectively can clinical examination pick up congenital heart disease at birth?

Congenital heart disease (CHD) is a major cause of death in infancy in term babies. It accounts for 3% of all infant deaths and 46% of all deaths from congenital malformations.¹ Those surviving beyond infancy have a 96% chance of reaching 16 years.² It is for these reasons that screening for CHD is essential. Routine antenatal screening for congenital heart defects is performed as part of the general anomaly scan at 18–20 weeks gestation. At present, this identifies on average about 25% of affected fetuses. Because of this low yield, routine clinical examination of all newborn babies remains necessary with the expectation that those with heart defects will be picked up.

The vast majority of these early deaths, particularly those occurring in the first two weeks of life, are due to a handful of lesions. They are the so called duct dependent lesions, namely coarctation of the aorta, critical aortic stenosis, interrupted aortic arch, hypoplastic left heart syndrome, transposition of the great arteries, pulmonary atresia, and critical pulmonary stenosis. To these must be added obstructed total anomalous pulmonary venous connection. These lesions, although individually rare, form the bulk of the life threatening heart conditions in the newborn period. The aim of any screening examination should therefore be to identify them.

To date, the reported results of such examinations have been uniformly poor from various studies. In one study, routine neonatal examination failed to detect more than half of babies with heart defects of all types.³ In …