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Epidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT study

2021-06-16Journal article Restricted access
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dc.contributor.authorSantoro, Michele
dc.contributor.authorCoi, Alessio
dc.contributor.authorBarišić, Ingeborg
dc.contributor.authorPierini, Anna
dc.contributor.authorAddor, Marie‐Claude
dc.contributor.authorBaldacci, Silvia
dc.contributor.authorBallardini, Elisa
dc.contributor.authorBoban, Ljubica
dc.contributor.authorBraz, Paula
dc.contributor.authorCavero‐Carbonell, Clara
dc.contributor.authorWalle, Hermien E.K.
dc.contributor.authorDraper, Elizabeth S.
dc.contributor.authorGatt, Miriam
dc.contributor.authorHaeusler, Martin
dc.contributor.authorKlungsøyr, Kari
dc.contributor.authorKurinczuk, Jennifer J.
dc.contributor.authorMaterna‐Kiryluk, Anna
dc.contributor.authorLanzoni, Monica
dc.contributor.authorLelong, Nathalie
dc.contributor.authorLuyt, Karen
dc.contributor.authorMokoroa, Olatz
dc.contributor.authorMullaney, Carmel
dc.contributor.authorNelen, Vera
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.authorZymak‐Zakutnia, Nataliia
dc.contributor.authorGarne, Ester
dc.date.accessioned2022-02-02T16:10:03Z
dc.date.available2022-02-02T16:10:03Z
dc.date.issued2021-06-16
dc.description.abstractBackground: Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden. Objective: The aim of this study was to investigate the epidemiology of PRS using a cohort of cases from EUROCAT, the European network of population-based registries of congenital anomalies. Methods: We analysed cases of PRS born in the period 1998-2017 collected by 29 population-based congenital anomaly registries in 17 different countries. We calculated prevalence estimates, prenatal detection rate, survival up to 1 week, and proportions of associated anomalies. The effect of maternal age was tested using a Poisson regression model. Results: Out of 11 669 155 surveyed births, a total of 1294 cases of PRS were identified. The estimate of the overall prevalence was 12.0 per 100 000 births (95% CI 9.9, 14.5). There was a total of 882 (68.2%) isolated cases, and the prevalence was 7.8 per 100 000 births (95% CI 6.7, 9.2). A total of 250 cases (19.3%) were associated with other structural congenital anomalies, 77 cases (6.0%) were associated with chromosomal anomalies and 77 (6.0%) with genetic syndromes. The prenatal detection rate in isolated cases was 12.0% (95% CI 9.8, 14.5) and increased to 16.0% (95% CI 12.7, 19.7) in the sub-period 2008-2017. The prevalence rate ratio of non-chromosomal cases with maternal age ≥35 was higher than in cases with maternal age <25 for total (PRR 1.26, 95% CI 1.05, 1.51) and isolated cases (PRR 1.33, 95% CI 1.00, 1.64). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were lower than survival of isolated cases (99.4%). Conclusions: This epidemiological study using a large series of cases of PRS provides insights into the epidemiological profile of PRS in Europe. We observed an association with higher maternal age, but further investigations are needed to test potential risk factors for PRS.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPaediatr Perinat Epidemiol. 2021 Sep;35(5):530-539. doi: 10.1111/ppe.12776. Epub 2021 Jun 16pt_PT
dc.identifier.doi10.1111/ppe.12776pt_PT
dc.identifier.issn0269-5022
dc.identifier.urihttp://hdl.handle.net/10400.18/7913
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley/ Society for Pediatric and Perinatal Epidemiologic Researchpt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1111/ppe.12776pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectEUROCATpt_PT
dc.subjectRENACpt_PT
dc.subjectPierre Robin Sequencept_PT
dc.subjectEpidemiologypt_PT
dc.subjectPrevalencept_PT
dc.subjectRare Congenital Anomaliespt_PT
dc.subjectEuropept_PT
dc.subjectObservação em Saúde e Vigilânciapt_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.titleEpidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage539pt_PT
oaire.citation.issue5pt_PT
oaire.citation.startPage530pt_PT
oaire.citation.titlePaediatric and Perinatal Epidemiologypt_PT
oaire.citation.volume35pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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