Ingeborg Barisic

1 Background Congenital anomalies occur in 2%–3% of births and have a large impact on child morbidity and mortality [1-3]. The cause of congenital anomalies remains unknown in approximately 80% of cases and is thought to be of multifactorial origin [4]. However, for some congenital anomaly cases, a genetic cause can be identified [5, 6]. The chances of finding a genetic cause are dependent on the type of congenital anomaly.

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1 INTRODUCTION Congenital anomalies occur in 2%–3% of births (EUROCAT, 2022b) and lead to significant morbidity and mortality (Glinianaia et al., 2020; WHO, 2020). They also have a large impact on families, health care systems, and society as a whole (WHO, 2020). The cause of congenital anomalies is often unknown or multifactorial, but in some cases, a genetic or teratogenic cause can be identified. Also, one type of congenital anomaly can have different etiologies.