The epidemiology of birth defects

Abstract

Birth defects are emerging as the one of the leading causes of infant death worldwide. Their epidemiological investigation was prompted by the recognition of congenital rubella syndrome and of thalidomide-related phocomelia. Pediatric surgeons require sound data on birth defects as a baseline for reporting their own outcomes. Hence, birth defects data are the foundation for quality control and improvement in neonatal surgery. However, meaningful epidemiological studies of birth defects are often challenged practically by limited resources and dispersed populations, as well as scientifically by prioritization of reductionist genetic investigations. Instead, it may be more helpful to see birth defects as complex systems problems, similar to surgical errors. Accordingly, a better understanding of birth defects may require pediatric surgeons equipped with training in statistics, modeling and complex dynamic systems, rather than the current popularity for molecular biology approaches. Finally, birth defects are sensitive to widely different influences ranging from assisted reproduction technology to climate change. Thus, for a greater number of population health issues, birth defects may provide an early warning signal that can only be tracked with appropriate epidemiological measurements. The COVID-19 pandemic only emphasizes this need for investment in public health and the science of populations.