Objectives: To assess overall and malformation-specific trends in the prevalence, prenatal diagnosis and pregnancy termination of congenital malformations in the Parisian population.
Methods: We used data from the Paris Registry of Congenital Malformations, which includes all births and pregnancy terminations with structural birth defects or chromosomal anomalies. Data on total and live birth prevalence were available for the period 1981-2000 and for prenatal diagnosis and pregnancy terminations for 1983-2000. Twenty malformations were selected for malformation-specific analyses due to their higher frequency and consistent definitions in different classification systems.
Results: For the period 1981-2000, the overall total prevalence of malformations was 3.2%. Prenatal diagnosis rates consistently increased from 16.2% (95% CI, 13.8-18.6) of cases with malformation in 1983 to 69.1% (95% CI, 66.7-71.5) in 2000. Pregnancy terminations increased from 8.8% (95% CI, 7.0-10.8) of cases with malformation in 1983 to 30.1% (95% CI, 27.7-32.6) in 2000.
Conclusion: Registries of congenital malformations provide population-based data on the prevalence of malformations and their associations with other anomalies. Registry-based data can also be used to evaluate the impact of prenatal testing policies for congenital malformations.