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dc.contributor.authorSantoro, Micheleen_US
dc.contributor.authorCoi, Alessioen_US
dc.contributor.authorBarišić, Ingeborgen_US
dc.contributor.authorGarne, Esteren_US
dc.contributor.authorAddor, Marie-Claudeen_US
dc.contributor.authorBergman, Jorieke E.H.en_US
dc.contributor.authorBianchi, Fabrizioen_US
dc.contributor.authorBoban, Ljubicaen_US
dc.contributor.authorBraz, Paulaen_US
dc.contributor.authorCavero-Carbonell, Claraen_US
dc.contributor.authorGatt, Miriamen_US
dc.contributor.authorHaeusler, Martinen_US
dc.contributor.authorKinsner-Ovaskainen, Agnieszkaen_US
dc.contributor.authorKlungsøyr, Karien_US
dc.contributor.authorKurinczuk, Jennifer J.en_US
dc.contributor.authorLelong, Nathalieen_US
dc.contributor.authorLuyt, Karenen_US
dc.contributor.authorMaterna-Kiryluk, Annaen_US
dc.contributor.authorMokoroa, Olatzen_US
dc.contributor.authorMullaney, Carmelen_US
dc.contributor.authorNelen, Veraen_US
dc.contributor.authorNeville, Amanda Julieen_US
dc.contributor.authorO'Mahony, Mary T.en_US
dc.contributor.authorPerthus, Isabelleen_US
dc.contributor.authorRandrianaivo, Hanitraen_US
dc.contributor.authorRankin, Judithen_US
dc.contributor.authorRissmann, Ankeen_US
dc.contributor.authorRouget, Florenceen_US
dc.contributor.authorSchaub, Brunoen_US
dc.contributor.authorTucker, Daviden_US
dc.contributor.authorWellesley, Dianaen_US
dc.contributor.authorYevtushok, Lyuboven_US
dc.contributor.authorPierini, Annaen_US
dc.date.accessioned2020-06-18T12:23:36Z
dc.date.available2020-06-18T12:23:36Z
dc.date.issued2019
dc.PublishedSantoro M, Coi A, Barišić I, Garne E, Addor M, Bergman JE, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Kinsner-Ovaskainen, Klungsøyr K, Kurinczuk JJ, Lelong N, Luyt K, Materna-Kiryluk A, Mokoroa O, Mullaney C, Nelen V, Neville, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Yevtushok L, Pierini A. Epidemiology of Dandy-Walker malformation in Europe: A EUROCAT population-based registry study. Neuroepidemiology. 2019;53:169–179eng
dc.identifier.issn0251-5350
dc.identifier.issn1423-0208
dc.identifier.urihttps://hdl.handle.net/1956/22714
dc.descriptionUnder embargo until: 2020-07-12en_US
dc.description.abstractBackground: 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.en_US
dc.language.isoengeng
dc.publisherKargereng
dc.titleEpidemiology of Dandy-Walker malformation in Europe: A EUROCAT population-based registry studyen_US
dc.typePeer reviewed
dc.typeJournal article
dc.date.updated2020-01-27T12:45:32Z
dc.description.versionacceptedVersionen_US
dc.rights.holderCopyright 2019 S. Karger AG, Basel
dc.identifier.doihttps://doi.org/10.1159/000501238
dc.identifier.cristin1721543
dc.source.journalNeuroepidemiology


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