Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the <scp>EUROCAT</scp> Network

The modest increase in genetic diagnoses among cases with a congenital anomaly is not expected to have a large impact on the surveillance of the non-genetic anomalies in the EUROCAT network. EUROCAT will continue to monitor the proportion of genetic diagnoses every five years.

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Publication Details

Journal
Paediatric and Perinatal Epidemiology
Published
2025-11-24
DOI
https://doi.org/10.1111/ppe.70099
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Léa Bruneau, Anke Rißmann, Diana Wellesley, Joan K. Morris et al.
Paediatric and Perinatal Epidemiology
Genomics and Rare Diseases
article

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Léa Bruneau, Anke Rißmann, Diana Wellesley, Joan K. Morris, David Tucker, Clara Cavero‐Carbonell, Isabelle Perthus, Riccardo Pertile, Anna Latos‐Bieleńska, Ester Garne, K Kovacheva, Michele Santoro, Florence Rouget, Jorieke E. H. Bergman, Annie Perraud, Mary O’Mahony, Wladimir Wertelecki, Joanna Sichitiu, Ingeborg Barišić, Elisa Ballardini, Isabelle Monier, Miriam Gatt, Christine Verellen‐Dumoulin, Ianis Cousin
article en

Abstract

The modest increase in genetic diagnoses among cases with a congenital anomaly is not expected to have a large impact on the surveillance of the non-genetic anomalies in the EUROCAT network. EUROCAT will continue to monitor the proportion of genetic diagnoses every five years.

Paediatric and Perinatal Epidemiology
Poznan University of Medical Sciences (PL), University Medical Center Groningen (NL), Inserm (FR), St George's, University of London (GB), University of Groningen (NL), University of Zagreb (HR), University of Ferrara (IT), Université Paris Cité (FR), University of Reunion Island (RE), European Commission (BE), Sorbonne Université (FR), Public Health Wales (GB), Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR), Université Sorbonne Paris Nord (FR), Sorbonne Paris Cité (FR), Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (ES), Institute of Pathology and Genetics (BE), Istituto di Fisiologia Clinica (IT), Institut de Recherche en Santé, Environnement et Travail (FR), Provincia Autonoma di Trento (IT), Rivne State University of Humanities (UA), St. Finbarr's Hospital (IE), Mother Hospital (IN), Centre Hospitalier Universitaire de Clermont-Ferrand (FR), Ministry for Health (MT), Centre Hospitalier Universitaire de Martinique (MQ), Peuplements végétaux et bioagresseurs en milieu tropical (RE), Lillebaelt Hospital (DK), Health Data Research UK (GB), National Research Council (IT), City St George's, University of London (GB), Medical University Pleven (BG), Université de Rennes (FR), Otto-von-Guericke-Universität Magdeburg (DE)
European Commission
Openalex Percentile: Top 62%
Genomics and Rare Diseases
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