Surveillance of multiple congenital anomalies; searching for new associations

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. Within the European Platform on Rare Diseases Registration, the JRC is operating the Central Registry of EUROCAT, a European network for surveillance of congenital anomalies. The EUROCAT database contains over 1 million cases of anomalies reported since 1980 and is an invaluable source of information on these rare conditions. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomaly (excluding chromosomal and genetic syndromes) for the birth years 2008 to 2016. The EUROCAT multiple congenital anomaly algorithm identified 8,804 cases with two or more major congenital anomalies in different organ systems, that were not recognised as part of a syndrome or sequence. 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”. After review of the literature and detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations that merit further investigation.

MORRIS Joan;  BERGMAN Jorieke E.H.;  BARISIC Ingeborg;  WELLESLEY Diana;  TUCKER David;  LIMB Elisabeth;  ADDOR Marie-Claude;  CAVERO-CARBONELL Clara;  DIAS Carlos Matias;  DRAPER Elizabeth;  ECHEVARRÍA-GONZÁLEZ-DE-GARIBAY Luis;  GATT Miriam;  KLUNGSOYR Kari;  LELONG Natalie;  LUYT Karen;  MATERNA-KIRYLUK Anna;  NELEN Vera;  NEVILLE Amanda;  PERTHUS Isabelle;  PIERINI Anna;  RANDRIANAIVO Hanitra;  RANKIN Judith;  RISSMANN Anke;  ROUGET Florence;  SAYERS Gerardine;  WERTELECKI Wladimir;  KINSNER-OVASKAINEN Agnieszka;  GARNE Ester; 

2024-06-06

SPRINGERNATURE

JRC134093

1018-4813 (online),   

https://www.nature.com/articles/s41431-023-01502-w,    https://doi.org/10.1038/s41431-023-01502-w,    https://publications.jrc.ec.europa.eu/repository/handle/JRC134093,   

10.1038/s41431-023-01502-w (online),