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Maternal risk factors for the VACTERL association: a EUROCAT case-control study

2020-05-15Journal article Restricted access
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dc.contributor.authorvan de Putte, Romy
dc.contributor.authorvan Rooij, Iris A.L.M.
dc.contributor.authorHaanappel, Cynthia P.
dc.contributor.authorMarcelis, Carlo L.M.
dc.contributor.authorBrunner, Han G.
dc.contributor.authorAddor, Marie‐Claude
dc.contributor.authorCavero‐Carbonell, Clara
dc.contributor.authorMatias Dias, Carlos
dc.contributor.authorDraper, Elizabeth S.
dc.contributor.authorEtxebarriarteun, Larraitz
dc.contributor.authorGatt, Miriam
dc.contributor.authorKhoshnood, Babak
dc.contributor.authorKinsner‐Ovaskainen, Agnieszka
dc.contributor.authorKlungsoyr, Kari
dc.contributor.authorKurinczuk, Jenny J.
dc.contributor.authorLatos‐Bielenska, Anna
dc.contributor.authorLuyt, Karen
dc.contributor.authorO'Mahony, Mary T.
dc.contributor.authorMiller, Nicola
dc.contributor.authorMullaney, Carmel
dc.contributor.authorNelen, Vera
dc.contributor.authorNeville, Amanda J.
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.authorSchaub, Bruno
dc.contributor.authorTucker, David
dc.contributor.authorWellesley, Diana
dc.contributor.authorWiesel, Awi
dc.contributor.authorZymak‐Zakutnia, Natalya
dc.contributor.authorLoane, Maria
dc.contributor.authorBarisic, Ingeborg
dc.contributor.authorWalle, Hermien E.K.
dc.contributor.authorBergman, Jorieke E.H.
dc.contributor.authorRoeleveld, Nel
dc.date.accessioned2021-03-06T16:26:41Z
dc.date.available2021-03-06T16:26:41Z
dc.date.issued2020-05-15
dc.descriptionThe data that support the findings of this study are available from the EUROCAT registries.pt_PT
dc.description.abstractBackground: The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown. Objective: To identify maternal risk factors for VACTERL in offspring in a large European study. Methods: A case-control study was performed using data from 28 EUROCAT registries over the period 1997-2015 with case and control ascertainment through hospital records, birth and death certificates, questionnaires, and/or postmortem examinations. Cases were diagnosed with VACTERL, while controls had a genetic syndrome and/or chromosomal abnormality. Data collected included type of birth defect and maternal characteristics, such as age, use of assisted reproductive techniques (ART), and chronic illnesses. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) with 95% confidence intervals (95% CI). Results: The study population consisted of 329 VACTERL cases and 49,724 controls with recognized syndromes or chromosomal abnormality. For couples who conceived through ART, we found an increased risk of VACTERL (aOR 2.3 [95% CI 1.3, 3.9]) in offspring. Pregestational diabetes (aOR 3.1 [95% CI 1.1, 8.6]) and chronic lower obstructive pulmonary diseases (aOR 3.9 [95% CI 2.2, 6.7]) also increased the risk of having a child with VACTERL. Twin pregnancies were not associated with VACTERL (aOR 0.6 [95% CI 0.3, 1.4]). Conclusion: We identified several maternal risk factors for VACTERL in offspring befitting a multifactorial etiology.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBirth Defects Res. 2020 May 15;112(9):688-698. doi: 10.1002/bdr2.1686. Epub 2020 Apr 22.pt_PT
dc.identifier.doi10.1002/bdr2.1686pt_PT
dc.identifier.issn2472-1727
dc.identifier.urihttp://hdl.handle.net/10400.18/7350
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1002/bdr2.1686pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAssisted Reproductive Techniquespt_PT
dc.subjectEtiologypt_PT
dc.subjectMaternal Factorspt_PT
dc.subjectPregestational Diabetespt_PT
dc.subjectRespiratory Disorderspt_PT
dc.subjectAnomalias Congénitaspt_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.subjectObservação em Saúde e Vigilânciapt_PT
dc.subjectRegisto Nacional de Anomalias Congénitaspt_PT
dc.subjectRENACpt_PT
dc.subjectEuropean Surveillance of Congenital Anomaliespt_PT
dc.subjectEUROCATpt_PT
dc.subjectRegistos Epidemiológicospt_PT
dc.subjectEuropept_PT
dc.subjectPortugalpt_PT
dc.titleMaternal risk factors for the VACTERL association: a EUROCAT case-control studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage698pt_PT
oaire.citation.issue9pt_PT
oaire.citation.startPage688pt_PT
oaire.citation.titleBirth Defects Researchpt_PT
oaire.citation.volume112pt_PT
person.familyNameMatias Dias
person.givenNameCarlos
person.identifier.ciencia-id6311-6117-ADEB
person.identifier.orcid0000-0002-0206-5874
person.identifier.ridI-6335-2012
person.identifier.scopus-author-id23103292400
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationfe9524e7-fc22-42f6-8eca-ab6a513ddd6b
relation.isAuthorOfPublication.latestForDiscoveryfe9524e7-fc22-42f6-8eca-ab6a513ddd6b

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