Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Michele Santoro*, Alessio Coi, Ingeborg Barišić, Ester Garne, Marie-Claude Addor, Jorieke E H Bergman, Fabrizio Bianchi, Ljubica Boban, Paula Braz, Clara Cavero-Carbonell, Miriam Gatt, Martin Haeusler, Agnieszka Kinsner-Ovaskainen, Kari Klungsøyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Anna Materna-Kiryluk, Olatz Mokoroa, Carmel MullaneyVera Nelen, Amanda Julie Neville, Mary T O'Mahony, Isabelle Perthus, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Lyubov Yevtushok, Anna Pierini

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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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.

Original languageEnglish
Pages (from-to)169-179
Number of pages11
JournalNeuroepidemiology
Volume53
Issue number3-4
Early online date12-Jul-2019
DOIs
Publication statusPublished - Nov-2019

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