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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.authorde Walle, 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.accessioned2022-04-04T11:44:51Z
dc.date.available2022-04-04T11:44:51Z
dc.date.created2021-11-01T10:05:45Z
dc.date.issued2021
dc.identifier.issn0269-5022
dc.identifier.urihttps://hdl.handle.net/11250/2989592
dc.descriptionUnder embargo until: 2022-06-16en_US
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.en_US
dc.language.isoengen_US
dc.publisherWileyen_US
dc.titleEpidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT studyen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionacceptedVersionen_US
dc.rights.holderCopyright 2021 Wileyen_US
cristin.ispublishedtrue
cristin.fulltextpostprint
cristin.qualitycode1
dc.identifier.doi10.1111/ppe.12776
dc.identifier.cristin1950065
dc.source.journalPaediatric and Perinatal Epidemiologyen_US
dc.source.pagenumber530-539en_US
dc.identifier.citationPaediatric and Perinatal Epidemiology. 2021, 35 (5), 530-539.en_US
dc.source.volume35en_US
dc.source.issue5en_US


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