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Surveillance of multiple congenital anomalies; searching for new associations

2023-12-05Journal article Open access
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dc.contributor.authorMorris, Joan K.
dc.contributor.authorBergman, Jorieke E.H.
dc.contributor.authorBarisic, Ingeborg
dc.contributor.authorWellesley, Diana
dc.contributor.authorTucker, David
dc.contributor.authorLimb, Elizabeth
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorCavero-Carbonell, Clara
dc.contributor.authorMatias Dias, Carlos
dc.contributor.authorDraper, Elisabeth S.
dc.contributor.authorEchevarría-González-de-Garibay, Luis Javier
dc.contributor.authorGatt, Miriam
dc.contributor.authorKlungsøyr, Kari
dc.contributor.authorLelong, Nathalie
dc.contributor.authorLuyt, Karen
dc.contributor.authorMaterna-Kiryluk, Anna
dc.contributor.authorNelen, Vera
dc.contributor.authorNeville, Amanda
dc.contributor.authorPerthus, Isabelle
dc.contributor.authorPierini, Anna
dc.contributor.authorRandrianaivo-Ranjatoelina, Hanitra
dc.contributor.authorRankin, Judith
dc.contributor.authorRissmann, Anke
dc.contributor.authorRouget, Florence
dc.contributor.authorSayers, Geraldine
dc.contributor.authorWertelecki, Wladimir
dc.contributor.authorKinsner-Ovaskainen, Agnieszka
dc.contributor.authorGarne, Ester
dc.date.accessioned2024-02-14T10:38:16Z
dc.date.available2024-02-14T10:38:16Z
dc.date.issued2023-12-05
dc.description.abstractMany human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008–2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence. For each pair of anomalies, the odds of a case having both anomalies relative to having only one anomaly was calculated and the p value was estimated using a two-sided Fisher’s exact test. The Benjamini–Hochberg procedure adjusted p values to control the false discovery rate and pairs of anomalies with adjusted p values < 0.05 were identified. A total of 1386 combinations of two anomalies were analyzed. Out of the 31 statistically significant positive associations identified, 20 were found to be known associations or sequences already described in the literature and 11 were considered “potential new associations” by the EUROCAT Coding and Classification Committee. After a review of the literature and a detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations. In summary, systematically searching for congenital anomalies occurring together more frequently than expected using the EUROCAT database is worthwhile and has identified six new associations that merit further investigation.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEur J Hum Genet. 2023 Dec 5. doi: 10.1038/s41431-023-01502-w. Online ahead of print.pt_PT
dc.identifier.doi10.1038/s41431-023-01502-wpt_PT
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/10400.18/9101
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relation.publisherversionhttps://www.nature.com/articles/s41431-023-01502-wpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCongenital Anomaliespt_PT
dc.subjectEUROCATpt_PT
dc.subjectEUROCAT Databasept_PT
dc.subjectEpidemiology Registriespt_PT
dc.subjectCongenital Anomaly Registrypt_PT
dc.subjectSurveillance Registriespt_PT
dc.subjectEpidemiology Surveillance Datapt_PT
dc.subjectEuropept_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.titleSurveillance of multiple congenital anomalies; searching for new associationspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage6pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleEuropean Journal of Human Geneticspt_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.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationfe9524e7-fc22-42f6-8eca-ab6a513ddd6b
relation.isAuthorOfPublication.latestForDiscoveryfe9524e7-fc22-42f6-8eca-ab6a513ddd6b

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