Academic Journal
Surveillance of multiple congenital anomalies; searching for new associations
| العنوان: | Surveillance of multiple congenital anomalies; searching for new associations |
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| المؤلفون: | Morris, Joan, K, Bergman, Jorieke, Barišić, Ingeborg, Wellesley, Diana, Tucker, David, Limb, Elizabeth, Addor, Marie‐claude, Cavero‐carbonell, Clara, Matias Dias, Carlos, Draper, Elisabeth S, Echevarría-González-De-Garibay, Luis-Javier, Gatt, Miriam, Klungsoyr, Kari, Lelong, Nathalie, Luyt, Karen, Materna-Kiryluk, Anna, Nelen, Vera, Neville, Amanda, Perthus, Isabelle, Pierini, Anna, Randrianaivo-Ranjatoelina, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Sayers, Geraldine, Wertelecki, Wladimir, Kinsner-Ovaskainen, Agnieszka, Garne, Ester |
| المساهمون: | St George’s University Hospitals, University Medical Center Groningen Groningen (UMCG), University of Zagreb, University of Southampton, Public Health Wales Cardiff, Royaume uni, Université de Lausanne = University of Lausanne (UNIL), Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana Espagne (FISABIO), Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA), University of Leicester, Directorate for Health Information and Research Pietà, Malta (DHIR), University of Bergen (UiB), Obstetrical, Perinatal and Pediatric Epidemiology, Centre for Research in Epidemiology and Statistics, Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of Bristol Bristol, Poznan University of Medical Sciences Poland (PUMS), VIB-KU Leuven Center for Microbiology Leuven, Belgium, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Università degli Studi di Ferrara = University of Ferrara (UniFE), CHU Clermont-Ferrand, Institute of Clinical Physiology (IFC), National Research Council of Italy, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Newcastle University Newcastle, Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University Magdeburg (OVGU), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), École des Hautes Études en Santé Publique EHESP (EHESP), Health Service Executive (HSE), European Commission - Joint Research Centre Ispra (JRC), Odense University Hospital (OUH) |
| المصدر: | ISSN: 1018-4813. |
| بيانات النشر: | CCSD Nature Publishing Group |
| سنة النشر: | 2024 |
| مصطلحات موضوعية: | [SDV]Life Sciences [q-bio] |
| الوصف: | International audience ; Many 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/38052905; PUBMED: 38052905; WOS: 001114313300003 |
| DOI: | 10.1038/s41431-023-01502-w |
| الاتاحة: | https://hal.science/hal-04341848 https://hal.science/hal-04341848v1/document https://hal.science/hal-04341848v1/file/latest.pdf https://doi.org/10.1038/s41431-023-01502-w |
| Rights: | http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.A12F88E4 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41431-023-01502-w |
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