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

Abnormalities, Multiple Europe / epidemiology Female Humans Maternal Age Pierre Robin Syndrome / epidemiology Pregnancy Prevalence Registries
EUROCAT Pierre Robin sequence epidemiology prevalence rare congenital anomalies

Journal

Paediatric and perinatal epidemiology
ISSN: 1365-3016
Titre abrégé: Paediatr Perinat Epidemiol
Pays: England
ID NLM: 8709766

Informations de publication

Date de publication:
09 2021
Historique:
revised: 22 04 2021
received: 26 02 2021
accepted: 25 04 2021
pubmed: 17 6 2021
medline: 25 11 2021
entrez: 16 6 2021
Statut: ppublish

Résumé

Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden. 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. 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. 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%). 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.

Sections du résumé

BACKGROUND
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.

Identifiants

DOI: 10.1111/ppe.12776 PMID: 34132407
pubmed: 34132407
doi: 10.1111/ppe.12776
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

530-539

Informations de copyright

© 2021 John Wiley & Sons Ltd.

Références

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Auteurs

Michele Santoro (M)

Unit of Epidemiology of Rare diseases and Congenital anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
ORCID: 0000-0003-0676-3036

Alessio Coi (A)

Unit of Epidemiology of Rare diseases and Congenital anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.

Ingeborg Barišić (I)

Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.

Anna Pierini (A)

Unit of Epidemiology of Rare diseases and Congenital anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
Fondazione Toscana Gabriele Monasterio, Pisa, Italy.

Marie-Claude Addor (MC)

Department of Woman-Mother-Child University Medical Center CHUV Lausanne, Switzerland.

Silvia Baldacci (S)

Unit of Epidemiology of Rare diseases and Congenital anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.

Elisa Ballardini (E)

Neonatal Intensive Care Unit, Paediatric Section, IMER Registry (Emilia Romagna Registry of Birth Defects), Dep. of Medical Sciences, University of Ferrara, Ferrara, Italy.

Ljubica Boban (L)

Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.

Paula Braz (P)

Epidemiology Department, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal.

Clara Cavero-Carbonell (C)

Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.

Hermien E K de Walle (HEK)

University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, the Netherlands.

Elizabeth S Draper (ES)

Department Health Sciences, College of Life Sciences, University of Leicester, Leicester, UK.

Miriam Gatt (M)

Malta Congenital Anomalies Registry, Directorate for Health Information and Research, G'Mangia, Malta.

Martin Haeusler (M)

Medical University of Graz, Graz, Austria.

Kari Klungsøyr (K)

Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.

Jennifer J Kurinczuk (JJ)

National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

Anna Materna-Kiryluk (A)

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
ORCID: 0000-0002-2889-5892

Monica Lanzoni (M)

European Commission, Joint Research Centre (JRC), Ispra, Italy.

Nathalie Lelong (N)

Epidemiology and Statistics Research Center - CRESS, INSERM, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (EPOPé), Université de Paris, Paris, France.

Karen Luyt (K)

South West Congenital Anomaly Register, Bristol Medical School, University of Bristol, Bristol, UK.

Olatz Mokoroa (O)

Public Health Division of Gipuzkoa, Biodonostia Research Institute, Donostia-San Sebastian, Spain.
ORCID: 0000-0003-3831-6089

Carmel Mullaney (C)

Department of Public Health, HSE South East, Lacken, Kilkenny, Ireland.

Vera Nelen (V)

Provincial Institute of Hygiene, Antwerp, Belgium.

Mary T O'Mahony (MT)

Department of Public Health, HSE South (Cork & Kerry), Ireland.

Isabelle Perthus (I)

Auvergne registry of congenital anomalies (CEMC-Auvergne), Department of clinical genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.

Hanitra Randrianaivo (H)

Register of Congenital Malformations Isle of Reunion Island, CHU St Pierre, la Reunion, France.

Judith Rankin (J)

Population Health Sciences Institute, Newcastle University/National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), Public Health England, Newcastle upon Tyne, UK.

Anke Rissmann (A)

Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany.

Florence Rouget (F)

Brittany Registry of Congenital Malformations, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, Environnement et Travail) - UMR_S 1085, Rennes, France.

Bruno Schaub (B)

French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France.

David Tucker (D)

Congenital Anomaly Register & Information Service for Wales (CARIS), Public Health Wales, Swansea, UK.

Diana Wellesley (D)

Wessex Clinical Genetics Service, University Hospitals Southampton, Southampton, UK.

Nataliia Zymak-Zakutnia (N)

OMNI-Net for Children and Khmelnytsky City Children's Hospital, Khmelnytsky, Ukraine.

Ester Garne (E)

Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Epidemiology of Pierre-Robin sequence in...
questionsmedicales.fr › Régions géographiques › Europe › Epidemiology of Pierre-Robin sequence in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Epidemiology of Pierre-Robin sequence in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Âge maternel › Epidemiology of Pierre-Robin sequence in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations maxillofaciales › Malformations de la mâchoire › Syndrome de Pierre Robin › Epidemiology of Pierre-Robin sequence in...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Epidemiology of Pierre-Robin sequence in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Morbidité › Prévalence › Epidemiology of Pierre-Robin sequence in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enregistrements › Epidemiology of Pierre-Robin sequence in...