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

Abstract

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.

Keywords: Congenital heart disease; Congenital malformations; Diagnostic prénatal; Inborn genetic disease; Maladies génétiques congénitales; Malformations cardiaques congénitales; Malformations congénitales; Prenatal diagnosis.