Michele Santoro1, Alessio Coi2, Ingeborg Barišić3, Ester Garne4, Marie-Claude Addor5, Jorieke E H Bergman6, Fabrizio Bianchi2,7, Ljubica Boban3, Paula Braz8, Clara Cavero-Carbonell9, Miriam Gatt10, Martin Haeusler11, Agnieszka Kinsner-Ovaskainen12, Kari Klungsøyr13,14, Jennifer J Kurinczuk15, Nathalie Lelong16, Karen Luyt17, Anna Materna-Kiryluk18, Olatz Mokoroa19, Carmel Mullaney20, Vera Nelen21, Amanda Julie Neville22, Mary T O'Mahony23, Isabelle Perthus24, Hanitra Randrianaivo25, Judith Rankin26, Anke Rissmann27, Florence Rouget28, Bruno Schaub29, David Tucker30, Diana Wellesley31, Lyubov Yevtushok32, Anna Pierini2,7. 1. Institute of Clinical Physiology, National Research Council, Pisa, Italy, michele.santoro@ifc.cnr.it. 2. Institute of Clinical Physiology, National Research Council, Pisa, Italy. 3. Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia. 4. Department of Paediatric, Hospital Lillebaelt, Kolding, Denmark. 5. Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland. 6. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. 7. Fondazione Toscana Gabriele Monasterio, Pisa, Italy. 8. Department of Epidemiology, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal. 9. Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain. 10. Malta Congenital Anomalies Registry, Directorate for Health Information and Research, Pieta, Malta. 11. Medical University of Graz, Graz, Austria. 12. European Commission, Joint Research Centre, Ispra, Italy. 13. Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway. 14. Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway. 15. National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom. 16. Paris Registry of Congenital Malformations, Inserm UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), Center for Epidemiology and Statistics Sorbonne Paris Cité, DHU Risks in Pregnancy, Paris Descartes University, Paris, France. 17. South West Congenital Anomaly Register, Bristol Medical School, University of Bristol, Bristol, United Kingdom. 18. Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland. 19. Public Health Division of Gipuzkoa, Biodonostia Research Institute, Donostia-San Sebastian, Spain. 20. Department of Public Health, HSE South East, Kilkenny, Ireland. 21. Provincial Institute of Hygiene, Antwerp, Belgium. 22. IMER Registry (Emilia Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara Azienda Ospedaliero- Universitaria di Ferrara, Ferrara, Italy. 23. Department of Public Health, HSE South, Cork and Kerry, Ireland. 24. Department of Clinical Genetics, Auvergne Registry of Congenital Anomalies (CEMC-Auvergne), Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France. 25. Register of Congenital Malformations Isle of Reunion Ilsland, CHU St Pierre, La Reunion, France. 26. Institute of Health and Society, Newcastle University/National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), Public Health England, London, United Kingdom. 27. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany. 28. Brittany Registry of Congenital Malformations, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), UMR_S 1085, Rennes, France. 29. French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France Bay, France. 30. Congenital Anomaly Register and Information Service for Wales (CARIS), Public Health Wales, Swansea, United Kingdom. 31. Wessex Clinical Genetics Service, University Hospitals Southampton, Southampton, United Kingdom. 32. OMNI-Net for Children and Rivne Medical Diagnostic Center, Rivne, Ukraine.
Abstract
BACKGROUND: Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. OBJECTIVE: The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. METHODS: Anonymous individual data on cases of DW malformation diagnosed in 2002-2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. RESULTS: Out of 8,028,454 surveyed births we identified a total of 734 cases, including 562 DW malformation cases and 172 DW variant cases. The overall prevalence of DW malformation was 6.79 per 100,000 births (95% CI 5.79-7.96) with 39.2% livebirths, 4.3% foetal deaths from 20 weeks gestational age, and 56.5% terminations of pregnancy after prenatal diagnosis of foetal anomaly at any gestation (TOPFA). The livebirth prevalence was 2.74 per 100,000 births (95% CI 2.08-3.61). The prenatal detection rate was 87.6%. Two-hundred and seventy-three cases (48.6%) had an isolated cerebral anomaly and 24.2, 19.2 and 5.5% cases were associated with other structural non-cerebral anomalies, chromosomal anomalies and genetic syndromes respectively. The prevalence of DW variant was 2.08 per 100,000 (95% CI 1.39-3.13). CONCLUSIONS: This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies.
BACKGROUND: Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. OBJECTIVE: The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. METHODS: Anonymous individual data on cases of DW malformation diagnosed in 2002-2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. RESULTS: Out of 8,028,454 surveyed births we identified a total of 734 cases, including 562 DW malformation cases and 172 DW variant cases. The overall prevalence of DW malformation was 6.79 per 100,000 births (95% CI 5.79-7.96) with 39.2% livebirths, 4.3% foetal deaths from 20 weeks gestational age, and 56.5% terminations of pregnancy after prenatal diagnosis of foetal anomaly at any gestation (TOPFA). The livebirth prevalence was 2.74 per 100,000 births (95% CI 2.08-3.61). The prenatal detection rate was 87.6%. Two-hundred and seventy-three cases (48.6%) had an isolated cerebral anomaly and 24.2, 19.2 and 5.5% cases were associated with other structural non-cerebral anomalies, chromosomal anomalies and genetic syndromes respectively. The prevalence of DW variant was 2.08 per 100,000 (95% CI 1.39-3.13). CONCLUSIONS: This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies.
Authors: Felipe Gutierrez; Matheus Ballestero; David Herrera; Catalina Gonzalez; Alejandra Cardona; Laura Mora Journal: Childs Nerv Syst Date: 2022-05-19 Impact factor: 1.532
Authors: Mohammad Sharif Oria; Aziz Rahman Rasib; Ahmad Fawad Pirzad; Fahima Wali Ibrahim Khel; Mohammad Ismael Ibrahim Khel; Fazel Rahim Wardak Journal: Int Med Case Rep J Date: 2022-02-15