Dutch Caribbean genetics Diagnostics of congenital anomalies and genetic disorders in small island communities

Congenital anomalies and genetic disorders have emerged as a major global health problem. However, healthcare and research programs to improve diagnosis, prevention and treatment are still scarce in many regions, including small island developing states such as the Dutch Caribbean. The aim of this thesis is to contribute to better healthcare for individuals with congenital anomalies and genetic disorders in the Dutch Caribbean. In the first part of this thesis, we describe the prevalence of structural congenital anomalies in three out of the six Dutch Caribbean islands, and describe which congenital anomalies are more prevalent. In the second part, we evaluate the delivery of genetic services with a visiting clinical geneticist in the Dutch Caribbean. We demonstrate the importance of obtaining a genetic diagnosis, even in this resource-limited setting. In part three, we illustrate how our research in the Dutch Caribbean has yielded insights relevant for patients and clinicians worldwide.