Evidence map›Paper›PMID 41277385›Full record

ArticlePaediatric and perinatal epidemiology2026

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

Jorieke E H Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero-Carbonell, Ianis Cousin, Miriam Gatt and 14 more

Abstract read
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In one paragraph

Article in Paediatric and perinatal epidemiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Jorieke E H BergmanEurocat Northern Netherlands, Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID https://orcid.org/0000-0002-3929-3619
Annie PerraudEuropean Commission, Joint Research Centre (JRC), Geel, Belgium.
Ester GarneDepartment of Pediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark.ORCID https://orcid.org/0000-0003-0430-2594
Ingeborg BarisicMedical School University of Zagreb, Zagreb, Croatia.ORCID https://orcid.org/0000-0002-9085-6747
David TuckerResearch Data & Digital Directorate, Public Health Wales, Swansea, UK.
Elisa BallardiniDepartment of Medical Sciences, Neonatal Intensive Care Unit, University Hospital of Ferrara, University of Ferrara, IMER Registry (Emilia Romagna Registry of Birth Defects), Ferrara, Italy.ORCID https://orcid.org/0000-0002-8813-1835
Lea BruneauThe Reunion Registry of Congenital Malformations REMACOR, Department of Public Health and Research Support, University Hospital of La Réunion, Saint Pierre, France.ORCID https://orcid.org/0000-0002-4310-215X
Clara Cavero-CarbonellRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.ORCID https://orcid.org/0000-0002-4858-6456
Ianis CousinREMALAN, Department of Pediatric Surgery, CHU de Martinique, Fort de France, France.
Miriam GattDirectorate for Health Information and Research, Tal-Pietà, Malta.
Katya KovachevaDepartment of Medical Genetics, Medical University, Pleven, Bulgaria.
Anna Latos-BielenskaDepartment of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.ORCID https://orcid.org/0000-0002-9152-1674
Mary O'MahonyDepartment of Public Health HSE-SW, St Finbarrs' Hospital, Cork, Ireland.ORCID https://orcid.org/0000-0003-0574-7579
Isabelle MonierCentre for Research in Epidemiology and Statistics, Obstetrical Perinatal and Pediatric Life Course Epidemiology Research Team (OPPaLE), F-75004, Université Paris Cité and Université Sorbonne Paris Nord, INSERM, INRAE, Paris, France.
Isabelle PerthusAuvergne Registry of Congenital Anomalies (CEMC-Auvergne), Department of Clinical Genetics, Centre de Référence Maladies Rares "Anomalies du développement et Syndromes Malformatifs", University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.ORCID https://orcid.org/0000-0002-3845-6180
Riccardo PertileDepartment of Clinical and Evaluative Epidemiology, Healthcare Trust of the Autonomous Province of Trento, APSS, Trento, Italy.ORCID https://orcid.org/0000-0003-1455-842X
Anke RissmannMalformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.ORCID https://orcid.org/0000-0002-9437-2790
Florence RougetBrittany Registry of Congenital Anomalies, CHU Rennes, University of Rennes, INSERM, EHESP, Irset-UMR 1085, Rennes, France.ORCID https://orcid.org/0000-0001-5514-0893
Michelle SantoroUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.ORCID https://orcid.org/0000-0003-0676-3036
Joanna SichitiuUltrasound and Fetal Medicine Unit, Woman-Mother-Child Department, University Hospital Center CHUV, Lausanne, Switzerland.
Christine Verellen-DumoulinEurocat Hainaut-Namur, Center for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Belgium.
Wladimir WerteleckiOMNI-Net Programs, Rivne, Ukraine.ORCID https://orcid.org/0000-0001-5864-5985
Diana WellesleyUniversity Hospitals Southampton, Southampton, UK.ORCID https://orcid.org/0000-0002-9463-3188
Joan K MorrisSchool of Health and Medical Sciences, City St George's, University of London, London, UK.ORCID https://orcid.org/0000-0002-7164-612X

Funding

European Commission, Joint Research Centerthe Netherlands Ministry of Health, Welfare and Sports (VWS)
6 · The paper itself

Abstract

backgroundSurveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring.

objectivesWe examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.

methodsData was used from twenty EUROCAT congenital anomaly registries over the birth years 2013 and 2022. All pregnancy outcomes were included. Multilevel binomial regression models were fitted to estimate the annual change in the proportion of genetic diagnoses of all anomalies by registry. Results were additionally reported, excluding cases with trisomy 13, 18, or 21.

resultsOverall, 20% of the 100,099 cases in the study had a genetic diagnosis, and this proportion increased annually by 1.4% (95% CI, 0.8%-1.9%); an absolute increase of approximately 3% from 2013 to 2022. After excluding the trisomies, the overall proportion was 10% with an annual increase of 1.2% (95% CI 0.4%-2.0%). There was considerable variation in the proportion of genetic cases per registry. An increasing proportion of genetic diagnoses was found for five congenital anomaly groups, after excluding the trisomies. We hypothesise that the increase in genetic diagnoses is due to increased access to clinical genetic services, more extensive genetic testing, and the identification of new genes as causes of congenital anomalies.

conclusionsThe 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.

Indexed as

Congenital AbnormalitiesGenetic TestingPrenatal DiagnosisEuropeFemaleHumansInfant, NewbornPregnancyPrevalenceRegistriesbirth defectsheart defectsneural tube defectsorofacial cleftssyndrometrends

Identifiers

PMID41277385
PMCPMC13124677

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.