Objectives To describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe.
Design and setting Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births).
Participants All birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014.
Main outcome measures Prevalence, proportion of associated non-cerebral anomalies, prenatal detection rate.
Results 4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all cases were liveborn, 3% were fetal deaths and 41% resulted in TOPFA. Forty-eight per cent of all cases were an isolated cerebral anomaly, 25% had associated non-cerebral anomalies and 27% were chromosomal or part of a syndrome (genetic or teratogenic). The prevalence excluding genetic or chromosomal conditions increased by 2.4% per annum (95% CI: 1.3% to 3.5%), with the increases occurring only for congenital malformations of the corpus callosum (3.0% per annum) and ‘other reduction deformities of the brain’ (2.8% per annum).
Conclusions Only half of the cases were isolated cerebral anomalies. Improved prenatal and postnatal diagnosis may account for the increase in prevalence of congenital cerebral anomalies from 2005 to 2014. However, major differences in prevalence remain between regions.
- congenital abnorm
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Contributors EG and JKM conceived the study and cleaned the data in collaboration with the registries. JKM did the statistical analysis and EG wrote the first draft of the article. JR, EG, DGW and IB made substantial contributions to classification of the congenital anomalies, interpretation of results and revision of the manuscript. All other coauthors were registry representatives from EUROCAT participating registries. They contributed and validated their data and participated in the interpretation of results and critical revision of the manuscript. JKM is the guarantor. All authors had full access to all the data in the study and can take responsibility for the integrity of the data and the accuracy of the data analysis.
Funding Funding for the JRC-EUROCAT Central Registry is described in ‘A sustainable solution for the activities of the European network for surveillance of congenital anomalies’.5 EUROCAT registries are funded as described in: EUROCAT Member Registries: Organization and Processes.4
Competing interests None declared.
Ethics approval Local procedures regarding ethics approval for the registries’ activities and their collaborations with EUROCAT are available on the EUROCAT website (www.eurocat-network.eu/ABOUTUS/Member-Registries/ MembersAndRegistryDescriptions/AllMembers).
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement The data used in this study belong to the individual registries. However, requests for case data can be made to the JRC-EUROCAT Central Registry (JRC-EUROCAT@ec.europa.eu) who will ask the individual registries permission to use the data. Aggregate data, updated biannually, are available from the EUROCAT website http://www.eurocat-network.eu/accessprevalencedata/prevalencetables. Data included in the paper was extracted from the EUROCAT database in April 2016.
Correction notice This paper has been slightly amended since it was published Online First. Author Monica Lanzoni’s affiliation has been changed and in the main article, figure 3 legend has been updated.
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