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Surveillance of multiple congenital anomalies; searching for new associations

Medicine and Health

Surveillance of multiple congenital anomalies; searching for new associations

J. K. Morris, J. E. H. Bergman, et al.

This groundbreaking study uncovered unexpected pairs of congenital anomalies using data from the EUROCAT network. With thorough statistical analysis revealing significant associations, the research conducted by esteemed authors from across Europe suggests six pairs of anomalies warranting further exploration.

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Playback language: English
Abstract
This study analyzed data from the EUROCAT network of congenital anomaly registries (2008-2016) to identify pairs of anomalies occurring together more frequently than expected. Using a multiple congenital anomaly algorithm, 8804 cases with two or more major anomalies in different organ systems were identified. Statistical analysis revealed 31 significant positive associations. After literature review and case examination, six pairs remained as potential new associations, meriting further investigation.
Publisher
European Journal of Human Genetics
Published On
Dec 05, 2023
Authors
Joan K. Morris, Jorieke E. H. Bergman, Ingeborg Barisic, Diana Wellesley, David Tucker, Elizabeth Limb, Marie-Claude Addor, Clara Cavero-Carbonell, Carlos Matias Dias, Elisabeth S. Draper, Luis Javier Echevarría-González-de-Garibay, Miriam Gatt, Kari Klungsøyr, Nathalie Lelong, Karen Luyt, Anna Materna-Kiryluk, Vera Nelen, Amanda Neville, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo-Ranjatoelina, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Wladimir Wertelecki, Agnieszka Kinsner-Ovaskainen, Ester Garne
Tags
congenital anomalies
EUROCAT network
statistical analysis
major anomalies
positive associations
further investigation
clinical genetics

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