Epidemiological Surveillance of Congenital Anomalies in France in Areas Covered by a Registry: 2019–2021

Background and Objective: Congenital anomalies contribute to the overall burden of noncommunicable diseases due to their impact on perinatal and infant mortality, as well as on the care and quality of life of affected children. In France, epidemiological surveillance of congenital anomalies currently relies on data collected by seven population-based registries. This report provides an overview of the surveillance of congenital anomalies in the geographic areas covered by the registries for the period 2019–2021. Its objective is to describe the overall prevalence and prevalence by group of congenital anomalies, while distinguishing between cases with anomalies diagnosed in the presence of one (or more) genetic anomalies and those without an identified genetic anomaly. For each group, the data are broken down by pregnancy outcome, timing of the anomaly diagnosis (prenatal or postnatal), and maternal age. Materials and Methods: The data analyzed in this report are drawn from the five population-based registries that submitted individual-level data to EUROCAT for the 2019–2021 period. These registries cover part of mainland France (Paris, Auvergne, Brittany) and overseas departments and regions, notably Guadeloupe and Martinique (in the Antilles), and Réunion. Together, they account for approximately 16.4% of annual births in France. Each registry identifies and validates cases of congenital anomalies occurring during pregnancy or up to the first year of life by cross-referencing multiple data sources to ensure the completeness of the data collection. EUROCAT, the European network for the surveillance of congenital anomalies, then ensures the harmonization of data at the European level, notably through continuous quality control of inclusion criteria and the coding of anomalies. Prevalence rates (total, for live births, and for medical terminations of pregnancy (MTP)) are expressed per 10,000 births, with their 95% confidence intervals.; Results: Between 2019 and 2021, in the areas covered by the five French registries that submit individual data to EUROCAT, the overall prevalence of fetuses, newborns, and children with congenital anomalies was 352.5 per 10,000 total births. This prevalence varied by registry, ranging from 255.3 per 10,000 in the French West Indies to 397.4 per 10,000 in Brittany. The most frequently observed anomalies were congenital heart defects (CHD) (95.2 per 10,000), genetic anomalies (78.8 per 10,000), and limb anomalies (70.3 per 10,000). Among fetuses, newborns, and children with multiple anomalies, abdominal wall closure anomalies had the highest proportion of cases with at least one genetic anomaly (42.1%), followed by ear, facial, and neck anomalies (30.4%), and then by ocular anomalies, orofacial clefts, and central nervous system anomalies (23%). The overall prenatal diagnosis rate, across all types of anomalies, was 60.0% (95% CI [49.9 – 68.8]), exceeding 75% for fetuses with abnormalities of the abdominal wall, kidney, and urinary system, as well as for genetic abnormalities and those of the central nervous system (CNS). The most serious anomalies leading to medically indicated termination of pregnancy were most commonly genetic anomalies (54.5/10,000), followed by CNS anomalies (23.8 per 10,000) and MCCs (15.7 per 10,000). The risk that a fetus would have a congenital anomaly in the presence of at least one genetic anomaly was nearly eight times higher among mothers aged 40 and older compared to mothers aged 24 and younger. When no genetic abnormalities were identified, this difference related to maternal age did not appear, and the overall prevalence of congenital anomalies was slightly higher among the youngest mothers.; Conclusion: Epidemiological surveillance of congenital anomalies in France is currently based on population-based registries that produce standardized data. This first national report provides an up-to-date snapshot of the main indicators of prevalence, prenatal diagnosis, and pregnancy outcomes in the areas covered between 2019 and 2021. This information is essential for guiding public health policies on screening and prevention and for improving the care of children with congenital anomalies. In the short term, the congenital anomaly surveillance system in France will be strengthened by integrating data from the Rhône-Alpes and Nouvelle-Aquitaine registries. In the medium term, national coverage is planned for certain anomalies, supplementing registry data through the development of algorithms to identify congenital anomalies within the National Health Data System (SNDS) for areas not currently covered. This strengthening is all the more necessary given that recent demographic trends—notably the increase in maternal and paternal age, the rise in risk factors such as obesity and gestational diabetes, and environmental exposures—could influence the frequency of certain anomalies.

Author(s): El Rafei-Julia Rym, Chabaneix Julie, Bruneau Léa, Lelong Nathalie, Monier Isabelle, Omarjee Asma, Perthus Isabelle, Plavonil Corinne, Amar Emmanuelle, Cousin Ianis, Hoareau Jonathan, Huby Anne-Cécile, Nicolas Emmanuelle, Ryan Catherine, Vatin Minerve, Boudet-Berquier Julie, Bejarano-Quisoboni Daniel, Rouget Florence, Regnault Nolwenn

Publishing year: 2026

Pages: 52 p.

Collection: Monitoring Data

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