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

2019-07-12Journal article Restricted access
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dc.contributor.authorSantoro, Michele
dc.contributor.authorCoi, Alessio
dc.contributor.authorBarišić, Ingeborg
dc.contributor.authorGarne, Ester
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorBergman, Jorieke E.H.
dc.contributor.authorBianchi, Fabrizio
dc.contributor.authorBoban, Ljubica
dc.contributor.authorBraz, Paula
dc.contributor.authorCavero-Carbonell, Clara
dc.contributor.authorGatt, Miriam
dc.contributor.authorHaeusler, Martin
dc.contributor.authorKinsner-Ovaskainen, Agnieszka
dc.contributor.authorKlungsøyr, Kari
dc.contributor.authorKurinczuk, Jennifer J.
dc.contributor.authorLelong, Nathalie
dc.contributor.authorLuyt, Karen
dc.contributor.authorMaterna-Kiryluk, Anna
dc.contributor.authorMokoroa, Olatz
dc.contributor.authorMullaney, Carmel
dc.contributor.authorNelen, Vera
dc.contributor.authorNeville, Amanda Julie
dc.contributor.authorO’Mahony, Mary T.
dc.contributor.authorPerthus, Isabelle
dc.contributor.authorRandrianaivo, Hanitra
dc.contributor.authorRankin, Judith
dc.contributor.authorRissmann, Anke
dc.contributor.authorRouget, Florence
dc.contributor.authorSchaub, Bruno
dc.contributor.authorTucker, David
dc.contributor.authorWellesley, Diana
dc.contributor.authorYevtushok, Lyubov
dc.contributor.authorPierini, Anna
dc.date.accessioned2020-04-23T16:30:36Z
dc.date.available2020-04-23T16:30:36Z
dc.date.issued2019-07-12
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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNeuroepidemiology. 2019;53(3-4):169-179. doi: 10.1159/000501238. Epub 2019 Jul 12pt_PT
dc.identifier.doi10.1159/000501238pt_PT
dc.identifier.issn0251-5350
dc.identifier.urihttp://hdl.handle.net/10400.18/6498
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherKarger Publisherspt_PT
dc.relation.publisherversionhttps://www.karger.com/Article/Abstract/501238pt_PT
dc.subjectCuidados de Saúdept_PT
dc.subjectDandy-Walker Malformationpt_PT
dc.subjectDandy-Walker Variantpt_PT
dc.subjectEUROCATpt_PT
dc.subjectEpidemiologypt_PT
dc.subjectPrevalencept_PT
dc.subjectRENACpt_PT
dc.subjectAnomalias Congénitaspt_PT
dc.subjectEUROCATpt_PT
dc.subjectObservação em Saúde e Vigilânciapt_PT
dc.titleEpidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage179pt_PT
oaire.citation.issue3-4pt_PT
oaire.citation.startPage169pt_PT
oaire.citation.titleNeuroepidemiologypt_PT
oaire.citation.volume53pt_PT
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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