Published online January 3, 2005
PEDIATRICS Vol. 115 No. 1 January 2005, pp. 95-101 (doi:10.1542/10.1542/peds.2004-0516)

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Trends in Prenatal Diagnosis, Pregnancy Termination, and Perinatal Mortality of Newborns With Congenital Heart Disease in France, 1983–2000: A Population-Based Evaluation

Babak Khoshnood, MD, PhD^*, Catherine De Vigan, MD^*, Véronique Vodovar, RN^*, Janine Goujard, MD^*, Anne Lhomme, MS^*, Damien Bonnet, MD and François Goffinet, MD, MPH^*

^* Paris Registry of Congenital Malformations, Epidemiological Research Unit on Perinatal and Women's Health, INSERM U149, Villejuif, France
Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France

Objective. To examine population-based overall and malformation-specific trends in the prenatal diagnosis, pregnancy termination, and perinatal mortality for congenital heart disease (CHD) during a period of rapid progress in prenatal diagnosis and medical management of CHD and to explore the impact of prenatal diagnosis on early neonatal mortality for specific (isolated) cardiac malformations.

Methods. A total of 1982 cases of CHD, which were not associated with a known chromosomal anomaly, were obtained from the Paris Registry of Congenital Malformations. Main outcome measures were trends in the proportions diagnosed and terminated before birth, stillbirth, and early (<1 day, 1-week) neonatal mortality for (1) all cases; (2) all cases excluding isolated ventricular septal defects; and (3) malformation-specific trends for transposition of great arteries, hypoplastic left heart syndrome, coarctation of aorta, and tetralogy of Fallot. Analyses included cusum and binomial regression models for analysis of the trends during 1983–2000.

Results. Prenatal diagnosis rates for CHD increased from 23.0% (95% confidence interval [CI]: 19.0–27.4) in 1983–1988 to 47.3% (95% CI: 43.8–50.8) in 1995–2000. Termination rates increased between 1983 and 1989 (9.9%; 95% CI: 7.2–13.2) and 1989 and 1994 (14.7%; 95% CI: 12.3–17.4) but seemed to remain stable thereafter. Other than for hypoplastic left heart syndrome, pregnancy termination was exceptional for the other 3 specific malformations examined. Early neonatal mortality decreased to less than one third in the period 1995–2000 as compared with 1983–1989 (risk ratio, first-week mortality: 0.31; 95% CI: 0.18–0.53). First-week mortality was significantly lower for cases of transposition of great arteries that were diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0–26.7).

Conclusions. Progress in clinical management, together with policies for increased access to prenatal diagnosis, has resulted in both a substantial increase in the prenatal diagnosis and considerable reductions in early neonatal mortality of CHD in the Parisian population.

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Key Words: congenital heart disease • prenatal diagnosis • France • mortality

Abbreviations: CHD, congenital heart disease • HLHS, hypoplastic left heart syndrome • TGA, transposition of great arteries • ICD-9, International Classification of Disease, Ninth Revision • CI, confidence interval • RR, risk ratio

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Accepted Jun 21, 2004.

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