RATIONALE

Congenital heart defects (CHD) are the most frequent group of congenital anomalies representing a significant burden of mortality and morbidity and health service load.

OBJECTIVE

In the Northern Ireland population, served by a single paediatric cardiology centre, we determine the prevalence and trends of CHD among live births.

METHODS

This is a descriptive cross-sectional population-based study, using the paediatric cardiology database. The study included a total of 245,120 live births representing all children born in Northern Ireland 2005-2014.

RESULTS

A total of 11,410 children (4.65% of live births in Northern Ireland) received an echocardiogram for suspected CHD, and 3,059 children were subsequently diagnosed with a major CHD (prevalence = 12.48 per 1,000 live births (95% CI 12.04-12.93)) of whom 490 (16.02%) had genetic or chromosomal disorders including Down syndrome. The prevalence of non-genetic or chromosomal cases was 10.48 per 1,000 live births (95% CI 10.08-10.89) and did not change significantly over time (p = 0.91). The prevalence of CHD diagnosed in the first year of life was 8.46 per 1,000 live births (95% CI 8.10-8.83), which increased over time (p < 0.01). The prevalence of severe CHD was 2.02 per 1,000 live births (95% CI 1.85-2.21).

CONCLUSION

Northern Ireland has a high prevalence of CHD among European countries, which may be associated with complete ascertainment of both early and late diagnosed cases recorded in the paediatric cardiology database, as well as being one of the few European countries where terminations of pregnancy for foetal anomaly was illegal during the study period.