Abstract

To assess overall and malformation-specific trends in the prevalence and prenatal diagnosis of congenital anomalies in the Parisian population. The Paris Registry of Congenital Malformations is population-based and since 1981 has registered all cases with structural birth defects or chromosomal anomalies in the Parisian population. The total and livebirth prevalence and the proportion of cases with prenatal diagnosis were calculated for all anomalies and 20 malformations selected based on their higher frequency and their impact on health outcomes. The overall prevalence was 3.30% (95% CI 3.27-3.33), and the livebirth prevalence 2.42% (95% CI 2.39-2.45). The proportion of cases diagnosed prenatally increased from 16.5% (95% CI 14.1-19.1) in 1983 to 70.7% (95% CI 68.3-73.1) in 2007. Terminations of pregnancy for fetal anomaly (TOPFA) increased from 8.8% (95% CI 7.0-10.8) in 1983 to 35.6% (95% CI 33.1-38.1) in 2007. These results varied substantially for the 20 congenital anomalies studied. We found an increase in the overall prevalence of all anomalies, especially for chromosomal abnormalities. The observed increase is at least to a large extent due to trends in delayed childbearing and an increase in both pre- and postnatal diagnosis of congenital anomalies in our population.

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