Title: Epidemiology of Dandy-Walker malformation in Europe: a EUROCAT population-based study.
Authors: SANTORO MICHELECOI ALESSIOBARISIC INGEBORGGARNE ESTERADDOR MARIE-CLAUDEBERGMAN JORIEKE E.H.BIANCHI FABRIZIOBOBAN LJUBICABRAZ PAULACAVERO-CARBONELL CLARAGATT MIRIAMHAEUSLER MARTINKINSNER-OVASKAINEN AGNIESZKAKLUNGSOYR KARIKURINCZUK JENNIFERLELONG NATALIELUYT KARENMATERNA-KIRYLUK ANNAMOKOROA CAROLLO OLATZMULLANEY CARMELNELEN VERANEVILLE AMANDAO’MAHONY MARYPERTHUS ISABELLERANDRIANAIVO HANITRARANKIN JUDITHRISSMANN ANKEROUGET FLORENCESCHAUB BRUNOTUCKER DAVIDWELLESLEY DIANAYEVTUSHOK LYUBOVPIERINI ANNA
Citation: NEUROEPIDEMIOLOGY vol. 53 p. 169-179
Publisher: KARGER
Publication Year: 2019
JRC N°: JRC116347
ISSN: 0251-5350 (online)
URI: https://publications.jrc.ec.europa.eu/repository/handle/JRC116347
DOI: 10.1159/000501238
Type: Articles in periodicals and books
Abstract: 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. 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 EUROCAT network. 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. 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% fetal deaths from 20 weeks gestational age, and 56.5% terminations of pregnancy after prenatal diagnosis of fetal 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). 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 necessary in epidemiology studies of rare and severe congenital anomalies.
JRC Directorate:Health, Consumers and Reference Materials

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