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

Method. Autors combined data from the National Congenital Anomalies and Rare Diseases Registry, the National Congenital Heart Audit, and mortality data from the Office for National Statistics to create a cohort of cases with estimated dates of delivery/birth in 2018–2020. Outcomes included pregnancy loss, fetal loss (miscarriage/stillbirth), live birth without cardiac surgery in infancy, and live birth with intervention(s) in infancy. Infant mortality at 1 year was assessed.

Results. Among 11,265 cases of congenital heart disease, 63.7% were detected prenatally (95% CI 62.8%–64.6%), and for hypoplastic left ventricle (HLV), this figure rose to 94.2% (92.0%–96.0%). There were 1766 pregnancy terminations (15.7%, 95% CI 14.7%–16.7%), 295 cases of intrauterine fetal death (2.6%, 95% CI 1.6%–3.6%), 4538 live births without cardiac surgery (40.3%, 95% CI 39.3%–41.3%) and 4666 children with surgery (41.4%, 95% CI 40.4%–42.4%). Treatment discontinuation rates were higher with greater CHD complexity (e.g. hypoplastic left ventricular syndrome 51.1% (95% CI 46.8%–55.5%) versus isolated ventricular septal defect 6.0% (95% CI 4.3%–7.7%), p<0.001), non-cardiac comorbidities (23.6% (95% CI 21.9%–25.4%) versus 11.3% (95% CI 10.1%–12.6%), p<0.001), and in the least deprived versus the most deprived areas (20.3% (95% CI 17.5%–23.1%) versus 11.6% (95% CI 9.7%–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. Among those who died without intervention (n=602), the majority were those with critical congenital heart disease (n=154), preterm birth (n=301), and/or comorbidities (n=362).

Conclusion. This national pooled cohort study demonstrates that the majority of infant deaths occur without intervention, and prenatal diagnosis of the most complex lesions exceeds 90%. Registries and quality improvement programs should incorporate all congenital heart disease care pathways to ensure effective consultation and equitable service planning.

 

https://doi.org/10.1136/heartjnl-2025-326369

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