Myriam Bensemlali1, Fanny Bajolle2, Magalie Ladouceur2, Laurent Fermont2, Marilyne Lévy3, Jérôme Le Bidois2, Laurent J Salomon4, Damien Bonnet3. 1. AP-HP, Hôpital Necker-Enfants-Malades, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France. Electronic address: myriam.bensemlali@gmail.com. 2. AP-HP, Hôpital Necker-Enfants-Malades, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Paris, France. 3. AP-HP, Hôpital Necker-Enfants-Malades, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France. 4. Université Paris Descartes, Sorbonne Paris Cité, Paris, France; AP-HP, Hôpital Necker-Enfants-Malades, Maternité, Paris, France.
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.
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.