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Amniotic band syndrome and limb body wall complex in Europe 1980-2019

2022-12-30Journal article Open access
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dc.contributor.authorBergman, Jorieke E.H.
dc.contributor.authorBarišić, Ingeborg
dc.contributor.authorAddor, Marie‐Claude
dc.contributor.authorBraz, Paula
dc.contributor.authorCavero‐Carbonell, Clara
dc.contributor.authorDraper, Elizabeth S.
dc.contributor.authorEchevarría‐González‐de‐Garibay, Luis J.
dc.contributor.authorGatt, Miriam
dc.contributor.authorHaeusler, Martin
dc.contributor.authorKhoshnood, Babak
dc.contributor.authorKlungsøyr, Kari
dc.contributor.authorKurinczuk, Jennifer J.
dc.contributor.authorLatos‐Bielenska, Anna
dc.contributor.authorLuyt, Karen
dc.contributor.authorMartin, Danielle
dc.contributor.authorMullaney, Carmel
dc.contributor.authorNelen, Vera
dc.contributor.authorNeville, Amanda J.
dc.contributor.authorO'Mahony, Mary T.
dc.contributor.authorPerthus, Isabelle
dc.contributor.authorPierini, Anna
dc.contributor.authorRandrianaivo, Hanitra
dc.contributor.authorRankin, Judith
dc.contributor.authorRissmann, Anke
dc.contributor.authorRouget, Florence
dc.contributor.authorSayers, Gerardine
dc.contributor.authorSchaub, Bruno
dc.contributor.authorStevens, Sarah
dc.contributor.authorTucker, David
dc.contributor.authorVerellen‐Dumoulin, Christine
dc.contributor.authorWiesel, Awi
dc.contributor.authorGerkes, Erica H.
dc.contributor.authorPerraud, Annie
dc.contributor.authorLoane, Maria A.
dc.contributor.authorWellesley, Diana
dc.contributor.authorde Walle, Hermien E.K.
dc.date.accessioned2023-01-10T14:21:04Z
dc.date.available2023-01-10T14:21:04Z
dc.date.issued2022-12-30
dc.description.abstractAmniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980–2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly see in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAm J Med Genet A. 2022 Dec 30. doi: 10.1002/ajmg.a.63107. Online ahead of print.pt_PT
dc.identifier.doi10.1002/ajmg.a.63107pt_PT
dc.identifier.issn1552-4825
dc.identifier.urihttp://hdl.handle.net/10400.18/8414
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63107pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAmniotic Band Syndromept_PT
dc.subjectBody Stalk Anomalypt_PT
dc.subjectEUROCATpt_PT
dc.subjectEuropean surveillance of congenital anomaliespt_PT
dc.subjectEuropept_PT
dc.subjectAnomalias Congénitaspt_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.subjectObservação em Saúde e Vigilânciapt_PT
dc.subjectRENACpt_PT
dc.subjectRegisto Nacional de Anomalias Congénitaspt_PT
dc.subjectPortugalpt_PT
dc.titleAmniotic band syndrome and limb body wall complex in Europe 1980-2019pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleThe American Journal of Medical Genetics - Part A (AJMG)pt_PT
person.familyNameBraz
person.givenNamePaula
person.identifier.orcid0000-0003-3043-2827
rcaap.embargofctAcesso de acordo com página web do editor da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationa9cd25a1-e308-4175-9338-802416a5a706
relation.isAuthorOfPublication.latestForDiscoverya9cd25a1-e308-4175-9338-802416a5a706

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