Article Text

Download PDFPDF
Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study
  1. Joan K Morris1,
  2. Diana G Wellesley2,
  3. Ingeborg Barisic3,
  4. Marie-Claude Addor4,
  5. Jorieke E H Bergman5,
  6. Paula Braz6,
  7. Clara Cavero-Carbonell7,
  8. Elizabeth S Draper8,
  9. Miriam Gatt9,
  10. Martin Haeusler10,
  11. Kari Klungsoyr11,
  12. Jennifer J Kurinczuk12,
  13. Natalie Lelong13,
  14. Karen Luyt14,
  15. Catherine Lynch15,
  16. Mary T O’Mahony16,
  17. Olatz Mokoroa17,
  18. Vera Nelen18,
  19. Amanda J Neville19,
  20. Anna Pierini20,
  21. Hanitra Randrianaivo21,
  22. Judith Rankin22,
  23. Anke Rissmann23,
  24. Florence Rouget24,
  25. Bruno Schaub25,
  26. David F Tucker26,
  27. Christine Verellen-Dumoulin27,
  28. Awi Wiesel28,
  29. Natalia Zymak-Zakutnia29,
  30. Monica Lanzoni30,
  31. Ester Garne31
  1. 1 Population Health Research Institute, St George’s, University of London, London, UK
  2. 2 Department Clinical Genetics, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  3. 3 Children’s Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia
  4. 4 Department of Mother-Woman-Child, University Hospital Center, Lausanne, Switzerland
  5. 5 Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
  6. 6 Department of Epidemiology, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal
  7. 7 Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain
  8. 8 Department of Health Sciences, University of Leicester, Leicester, UK
  9. 9 Department of Health Information and Research, National Obstetric Information Systems, Valletta, Malta
  10. 10 Department of Obstetrics, Medical University of Graz, Graz, Austria
  11. 11 Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen and Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway
  12. 12 National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK
  13. 13 Paris Registry of Congenital Malformations, Obstetrical, Perinatal and Pediatric Epidemiology Research Team, Center for Biostatistics and Epidemiology, INSERM, Paris, France
  14. 14 Translational Health Sciences, University of Bristol Medical School, Bristol, Bristol, UK
  15. 15 Department of Public Health, Health Service Executive—South, Kilkenny, Ireland
  16. 16 Department of Public Health, Health Service Executive—South, Cork, Ireland
  17. 17 Public Health Department of Gipuzkoa, Biodonostia Instituto de Investigacion Sanitaria, Donostia-San Sebastian, Spain
  18. 18 Provinciaal Instituut voor Hygiene, Antwerpen, Belgium
  19. 19 IMER Registry, University of Ferrara and St Anna University Hospital, Ferrara, Italy
  20. 20 Tuscany Registry of Congenital Defects, National Research Council Institute of Clinical Physiology/Fondazione Toscana Gabriele Monasterio, Pisa, Italy
  21. 21 Registre des Malformations Congenitales de la Reunion, Saint Pierre, Réunion, France
  22. 22 Institute of Health & Society, Newcastle University, Newcastle, UK
  23. 23 Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany
  24. 24 Brittany Registry of Congenital Anomalies, Univ Rennes, CHU Rennes,Inserm, EHESP, Rennes, France
  25. 25 Maison de la Femme de la Mère et de l’Enfant, University Hospital of Martinique, Fort-de-France, Martinique
  26. 26 Congenital Anomaly Register and Information Service for Wales, Public Health Wales, Swansea, UK
  27. 27 Center for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Belgium
  28. 28 Mainz Model Birth Registry, Center of Child and Adolescence Medicine, University Medical Center, Mainz, Germany
  29. 29 OMNI-Net Ukraine, Khmelnytsky City Children’s Hospital, Khmelnytsky, Ukraine
  30. 30 European Commission, Joint Research Centre (JRC), Ispra, Italy
  31. 31 Paediatric Department, Hospital Lillebaelt, Kolding, Denmark
  1. Correspondence to Professor Joan K Morris; jmorris{at}


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.

  • epidemiology
  • congenital abnorm

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • 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 ( 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 ( who will ask the individual registries permission to use the data. Aggregate data, updated biannually, are available from the EUROCAT website 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.