Congenital anomalies (CAs) occur during the intrauterine life and can be identified during pregnancy, at birth or later in life. CAs can be defined as structural (e.g. limb reduction defects) or functional (metabolic disorders). In European countries, CAs affect approximately 2–3% of births. Although consequences vary depending on the type and severity of the condition, CAs are a major cause of fetal death and infant morbidity. Each year, more than 3 million children under the age of 5 die from CAs globally. In addition, many children with CAs and their families experience lifelong complications.

Whilst multiple factors have been identified as causes of CAs, approximately 50% of congenital disorders cannot be linked to a specific cause . Therefore, there is a pressing need for research to identify modifiable causes of CAs. This project aims to explore genetic and molecular mechanisms of CAs as well as risk factors such as maternal lifestyle factors, health and medication use.