{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:44:36Z","timestamp":1790516676598,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T00:00:00Z","timestamp":1623801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Paediatric Perinatal Epid"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to investigate the epidemiology of PRS using a cohort of cases from EUROCAT, the European network of population\u2010based registries of congenital anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analysed cases of PRS born in the period 1998\u20102017 collected by 29 population\u2010based congenital anomaly registries in 17 different countries. We calculated prevalence estimates, prenatal detection rate, survival up to 1\u00a0week, and proportions of associated anomalies. The effect of maternal age was tested using a Poisson regression model.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Out of 11\u00a0669\u00a0155 surveyed births, a total of 1294 cases of PRS were identified. The estimate of the overall prevalence was 12.0 per 100\u00a0000 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\u00a0000 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\u2010period 2008\u20102017. The prevalence rate ratio of non\u2010chromosomal cases with maternal age \u226535 was higher than in cases with maternal age &lt;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%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ppe.12776","type":"journal-article","created":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T10:36:17Z","timestamp":1623839777000},"page":"530-539","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Epidemiology of Pierre\u2010Robin sequence in Europe: A population\u2010based EUROCAT study"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0676-3036","authenticated-orcid":false,"given":"Michele","family":"Santoro","sequence":"first","affiliation":[{"name":"Unit of Epidemiology of Rare diseases and Congenital anomalies Institute of Clinical Physiology National Research Council Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessio","family":"Coi","sequence":"additional","affiliation":[{"name":"Unit of Epidemiology of Rare diseases and Congenital anomalies Institute of Clinical Physiology National Research Council Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg","family":"Bari\u0161i\u0107","sequence":"additional","affiliation":[{"name":"Children's Hospital Zagreb Centre of Excellence for Reproductive and Regenerative Medicine Medical School University of Zagreb Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pierini","sequence":"additional","affiliation":[{"name":"Unit of Epidemiology of Rare diseases and Congenital anomalies Institute of Clinical Physiology National Research Council Pisa Italy"},{"name":"Fondazione Toscana Gabriele Monasterio Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Claude","family":"Addor","sequence":"additional","affiliation":[{"name":"Department of Woman\u2010Mother\u2010Child University Medical Center CHUV Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Baldacci","sequence":"additional","affiliation":[{"name":"Unit of Epidemiology of Rare diseases and Congenital anomalies Institute of Clinical Physiology National Research Council Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Ballardini","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Paediatric Section, IMER Registry (Emilia Romagna Registry of Birth Defects) Dep. of Medical Sciences University of Ferrara Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubica","family":"Boban","sequence":"additional","affiliation":[{"name":"Children's Hospital Zagreb Centre of Excellence for Reproductive and Regenerative Medicine Medical School University of Zagreb Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Braz","sequence":"additional","affiliation":[{"name":"Epidemiology Department National Institute of Health Doutor Ricardo Jorge Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Cavero\u2010Carbonell","sequence":"additional","affiliation":[{"name":"Rare Diseases Research Unit Foundation for the Promotion of Health and Biomedical Research in the Valencian Region Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermien E. K.","family":"de Walle","sequence":"additional","affiliation":[{"name":"University Medical Center Groningen Department of Genetics University of Groningen Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth S.","family":"Draper","sequence":"additional","affiliation":[{"name":"Department Health Sciences College of Life Sciences University of Leicester Leicester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Gatt","sequence":"additional","affiliation":[{"name":"Malta Congenital Anomalies Registry Directorate for Health Information and Research G'Mangia Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Haeusler","sequence":"additional","affiliation":[{"name":"Medical University of Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Klungs\u00f8yr","sequence":"additional","affiliation":[{"name":"Department of Global Public Health and Primary Care University of Bergen Bergen Norway"},{"name":"Division of Mental and Physical Health Norwegian Institute of Public Health Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Kurinczuk","sequence":"additional","affiliation":[{"name":"National Perinatal Epidemiology Unit Nuffield Department of Population Health University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2889-5892","authenticated-orcid":false,"given":"Anna","family":"Materna\u2010Kiryluk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Lanzoni","sequence":"additional","affiliation":[{"name":"European Commission Joint Research Centre (JRC) Ispra Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Lelong","sequence":"additional","affiliation":[{"name":"Epidemiology and Statistics Research Center \u2010 CRESS INSERM Obstetrical, Perinatal and Pediatric Epidemiology Research Team (EPOP\u00e9) Universit\u00e9 de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Luyt","sequence":"additional","affiliation":[{"name":"South West Congenital Anomaly Register Bristol Medical School University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3831-6089","authenticated-orcid":false,"given":"Olatz","family":"Mokoroa","sequence":"additional","affiliation":[{"name":"Public Health Division of Gipuzkoa Biodonostia Research Institute Donostia\u2010San Sebastian Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmel","family":"Mullaney","sequence":"additional","affiliation":[{"name":"Department of Public Health HSE South East Lacken, Kilkenny Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Nelen","sequence":"additional","affiliation":[{"name":"Provincial Institute of Hygiene Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary T.","family":"O\u2019Mahony","sequence":"additional","affiliation":[{"name":"Department of Public Health HSE South (Cork &amp; 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