Research

Neural tube defects and sex ratio distortion: factors associated with the sex of children with NTDs in data from the European network of population-based registries of congenital anomalies (EUROCAT)

Rima Obeid, Anke Rissmann

The main objective of the study is to investigate sex ratio distortion and factors associated with the sex of the children among pregnancies affected with NTDs (terminations, stillbirths, and live births) in all available EUROCAT data collected from the year 2000 upward in all member registers with less than 20% missing data on sex of the child.

Full members

2000-2019

Choanal atresia and stenosis in Europe 1980-2020.

Jorieke Bergmann

The study aims to determine the prevalence of choanal atresia / stenosis in EUROCAT data over 1980-2020 and to study trends over time. The characteristics of choanal atresia / stenosis cases will also be described (including type of birth, gender, gestational length, birth weight, one-week survival, prenatal diagnosis, others). Finally, potential risk factors will be studied.

Full members

1980-2020

COVICAT: Covid19 infection and vaccination in pregnancy: An Irish cohort study and European ecological study to assess risks of congenital anomalies

Maria Loane

The study will investigate whether there is any temporal relationship between the prevalence of congenital anomalies, and the rate of infection or vaccination during the first trimester of pregnancy, in an ecological study design.

Full members

2016-2022

Improved Understanding of the Etiopathogenesis of Selected Congenital Anomalies: Prevalence Project – European Estimates, 1997-2021 (Group I Congenital Anomalies)

Paul Romitti

The study will estimate European prevalence of selected anomalies (omphalocele, hydrocephaly, oesophagial atresia with or without tracheoesophageal fistula, diaphragmatic hernia) from 1997 to 2021 and describe the epidemiology of each anomaly.

Full members

1997-2021

Global estimates of congenital disorders (birth defects)

Kate Strong

The study will produce new estimates of the burden of structural anomalies (including NTD, orofacial clefts, abdominal wall and urogenital anomalies), trisomies 13, 18 and 21 as well as congenital heart defects. These estimates will be produces by the World Health Organisation (WHO) in conjunction with partners around the world.

Full members - pooled together to provide EUROCAT prevalence estimates

2010-2021

Epidemiology of Noonan’s Syndrome in Europe

Michele Santoro, Maria Valentina Abate

This study aims to provide updated prevalence rates and comprehensive epidemiological insights into Noonan Syndrome, examining aspects such as, time of diagnosis, impact of genetic testing, sex ratio, type of birth, family history, regional and temporal variations, and associated malformations.

Full members

1992-2022