Congenital heart disease: issues with screening at the newborn physical examination

Congenital heart disease (CHD) is a significant cause of infant death and accounts for between 3-7.5% of deaths in infancy in the developed world (Singh et al, 2014). For this reason, screening for CHD is included in the newborn physical examination (NPE) that occurs within 72 hours of birth. This article will review the limitations of screening for CHD at the NPE, within the context of the UK screening programme. Reference will be made to relevant fetal and neonatal physiology. In addition, the usefulness of additional screening tools, such as pulse oximetry and four-limb blood pressure (BP) will be considered, in the light of recent research evidence.

CHD can be defined as: ‘A heart condition that results in an abnormality of the actual structure of the heart or of its function, which is present from birth’ (Peterson, 2003).

The exact incidence of CHD is debated since research studies from the past 20 years have presented a variety of statistics. Hoffman and Kaplan (2002) gave an incidence of 12-14 per 1 000 births, whereas Patton and Hey (2006) stated a lower incidence of 5-8 per 1 000 births. More recently, Public Health England ([PHE], 2016) cited the overall incidence of CHD as four to 10 per 1 000. The variation in statistics for CHD stems from the fact that it is a term that covers a wide range of defects. These vary from minor and clinically insignificant anomalies to those that require urgent treatment to preserve life (Mellander, 2013).