Associated genetic syndromes and extracardiac malformations strongly influence outcomes of fetuses with congenital heart diseases

Summary Background Congenital heart disease (CHD) is often associated with extracardiac malformations (ECMs) and genetic syndromes. Aims To determine the effect of cytogenetic anomalies and/or ECMs associated with CHD on parental decision to choose termination of pregnancy (TOP) or compassionate care (CC), as well as on the outcome of children born alive. Methods This 10-year retrospective study included all prenatally diagnosed cases of CHD in a single tertiary referral centre. Results From January 2002 to December 2011, 2036 consecutive cases of fetal CHD (798 TOPs and 1238 live births, including 59 with postnatal CC) were included. CHD was associated with a known cytogenetic anomaly in 9.8% of cases and a major ECM in 11.7% of cases. The proportion of prenatally identified associated cytogenetic anomalies was significantly lower in the live-birth group than in the TOP plus CC group (4.2% vs 17.5%; P < 0.001); this was also true for ECMs (8.1% vs 16.7%; P < 0.001). The mortality rate was higher in the group with an associated cytogenetic anomaly or ECM (29.1%) than in cases with isolated CHD; a 2.4-fold increase in the death rate was observed (95% confidence interval 1.34–4.38; P = 0.003). These associations remained significant after multivariable analysis, including the severity of the CHD (uni- or biventricular physiology). Conclusion Prenatal diagnosis of a known cytogenetic anomaly or major ECM strongly influences parental decision to choose TOP or postnatal CC. Genetic syndromes and ECMs are associated with a higher mortality rate, independent of the complexity of the CHD.