Congenital heart disease in England: a national cohort study from fetal diagnosis to end of infancy

Background Population studies of congenital heart disease (CHD) often include only children receiving cardiac interventions, underestimating the burden of cases without intervention. We evaluated outcomes for all detected structural CHD cases in England from fetal life to the age of 1 year. Method We linked the National Congenital Anomaly and Rare Disease Registration Service, the National Congenital Heart Disease Audit, and Office for National Statistics mortality records to construct an incident cohort with estimated delivery/birth dates 2018–2020. Outcomes were: termination of pregnancy, fetal loss (miscarriage/stillbirth), live birth with no cardiac intervention in infancy, and live birth with intervention(s) in infancy.

Infant mortality at the age of 1 year was assessed. Results Among 11 265 CHD cases, 63.7% were antenatally detected (95% CI 62.8% to 64.

6%), rising to 94.2% (92.0% to 96.0%) for hypoplastic left heart syndrome (HLHS).

There were 1766 terminations (15.7%, 95% CI 14.7% to 16.7%), 295 fetal losses (2.

6%, 95% CI 1.6% to 3.6%), 4538 live births with no infant cardiac intervention (40.3%, 95% CI 39.

3% to 41.3%) and 4666 with intervention(s) (41.4%, 95% CI 40.4% to 42.

4%). Termination was higher with greater CHD complexity (eg, HLHS 51.1% (95% CI 46.8% to 55.

5%) versus isolated ventricular septal defect 6.0% (95% CI 4.3% to 7.7%), p<0.

001), non-cardiac comorbidities (23.6% (95% CI 21.9% to 25.4%) vs 11.

3% (95% CI 10.1% to 12.6%), p<0.001), and least versus most deprived areas (20.

3% (95% CI 17.5% to 23.1%) vs 11.6% (95% CI 9.

7% to 13.5%), p<0.001). Infant mortality was 13.

3% (602/4538) in the no-intervention group and 5.2% (243/4666) in the intervention group; those deaths without intervention (n=602) were predominantly cases with critical CHD (n=154), preterm birth (n=301) and/or comorbidity (n=362). Conclusion This national, linked cohort shows that un-intervened cases account for most infant deaths and that antenatal detection exceeds 90% for the most complex lesions. Registries and quality improvement should include all CHD care pathways to inform counselling and equitable service planning.