Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

Joan K Morris*, Diana G Wellesley, Ingeborg Barisic, Marie-Claude Addor, Jorieke E H Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J Kurinczuk, Natalie Lelong, Karen Luyt, Catherine Lynch, Mary T O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna PieriniHanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David F Tucker, Christine Verellen-Dumoulin, Awi Wiesel, Natalia Zymak-Zakutnia, Monica Lanzoni, Ester Garne

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Abstrakt

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.

OriginalsprogEngelsk
TidsskriftArchives of Disease in Childhood
Vol/bind104
Udgave nummer12
Sider (fra-til)1181-1187
ISSN0003-9888
DOI
StatusUdgivet - dec. 2019

Bibliografisk note

© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

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  • Citationsformater

    Morris, J. K., Wellesley, D. G., Barisic, I., Addor, M-C., Bergman, J. E. H., Braz, P., Cavero-Carbonell, C., Draper, E. S., Gatt, M., Haeusler, M., Klungsoyr, K., Kurinczuk, J. J., Lelong, N., Luyt, K., Lynch, C., O'Mahony, M. T., Mokoroa, O., Nelen, V., Neville, A. J., ... Garne, E. (2019). Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study. Archives of Disease in Childhood, 104(12), 1181-1187. https://doi.org/10.1136/archdischild-2018-316733