Congenital anomalies occur in 2-3% of children and are one of the leading causes of childhood mortality and long-term disability. They have a large impact on families, health care systems and society. Examples of common congenital anomalies are heart defects, orofacial clefts, clubfeet and trisomy. Congenital anomalies can have a genetic aetiology, but often both environmental and genetic factors may play a role. Some congenital anomalies can be prevented, for example by adequate intake of folic acid or by switching to different medications prior to pregnancy.
EUROCAT Northern Netherlands started in 1981 and has six main research interests:
The registry
Parents complete questionnaires including questions on
For more detailed information about data and biomaterials: EUROCAT Northern Netherlands (cohort page).
The prevalence of congenital anomalies in Northern Netherlands and other European regions covered by EUROCAT is presented on the EUROCAT network website.
The EUROCAT network performs each year a trend and cluster analysis for each registry and all registries combined to investigate whether more children with specific congenital anomalies are born than expected.
Annually, we do surveillance to investigate whether certain medications are associated with specific congenital anomalies. In addition, we are involved in several studies investigating medication use in pregnancy. We are part of EUROmediCAT, a European research consortium dedicated to improving medication safety in pregnancy. Also, we provide data for the ConcePTION project, a project funded by the Innovative Medicines Initiative, which aims to provide more information on the safety of medication use during pregnancy and breastfeeding.
Many congenital anomalies are thought to have multifactorial origin, in which environmental factors as well as genetic factors play a role. We investigate several environmental factors to investigate if they can increase the risk of congenital anomalies. Examples of those factors are: occupational exposure, air pollution and infections like SARS-CoV-2. We also investigate the effect of folic acid supplementation to prevent neural tube defects (anencephaly, encephalocele and spina bifida), heart defects and orofacial clefts.
We participate in EUROlinkCAT, a European Horizon 2020 project. EUROlinkCAT aims to investigate the health and educational outcomes of children with congenital anomalies for the first ten years of their lives. EUROlinkCAT will use the existing EUROCAT infrastructure to support 22 registries in 14 European countries to link their congenital anomaly data to mortality, hospital discharge, prescription and educational databases. We also aim to facilitate the development of a more reciprocal relationship between families with children with congenital anomalies, health and social care professionals and researchers by conducting focus groups and a comprehensive questionnaire for parents.
Since January 2007, a nationwide prenatal screening program has been implemented in the Netherlands. The prenatal screening program includes screening for Down-, Edwards-, and Patau syndrome (via NIPT or combined test), and screening for structural anomalies via an anomaly scan around 20 weeks gestation. When the mother has an increased risk, either detected through a screening test or based on family or medical history, prenatal diagnosis is offered through amniocentesis or chorion villus biopsy for genetic aberrations or an advanced ultrasound for structural anomalies. We investigate the sensitivity of the prenatal screening to detect congenital anomalies and which factors can modify this. We also study if the changes in prenatal screening have effect on the timing of detection of congenital anomalies or on the outcome of pregnancy.
University Medical Center Groningen (UMCG)
EUROCAT Northern Netherlands
PO Box 30.001
9700 RB Groningen
The Netherlands
