Surveillance of multiple congenital anomalies; searching for new associations.

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State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_D5E08218E6E9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Surveillance of multiple congenital anomalies; searching for new associations.
Journal
European journal of human genetics
Author(s)
Morris J.K., Bergman JEH, Barisic I., Wellesley D., Tucker D., Limb E., Addor M.C., Cavero-Carbonell C., Matias Dias C., Draper E.S., Echevarría-González-de-Garibay L.J., Gatt M., Klungsøyr K., Lelong N., Luyt K., Materna-Kiryluk A., Nelen V., Neville A., Perthus I., Pierini A., Randrianaivo-Ranjatoelina H., Rankin J., Rissmann A., Rouget F., Sayers G., Wertelecki W., Kinsner-Ovaskainen A., Garne E.
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Publication state
Published
Issued date
04/2024
Peer-reviewed
Oui
Volume
32
Number
4
Pages
407-412
Language
english
Notes
Publication types: Review ; Journal Article
Publication Status: ppublish
Abstract
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.
Keywords
Humans, Teratogens, Abnormalities, Multiple, Registries, Syndrome, Databases, Factual, Congenital Abnormalities/diagnosis, Congenital Abnormalities/epidemiology, Congenital Abnormalities/genetics, Prevalence, Europe/epidemiology
Pubmed
Web of science
Open Access
Yes
Create date
07/12/2023 17:04
Last modification date
23/04/2024 7:16
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