Are epidemiological approaches suitable to study risk/preventive factors for human birth defects?

Birth defects are a major cause of infant morbidity and mortality and contribute substantially to long-term disability. One out of every 33 babies is born with some type of birth defect. Despite decades of research on environmental, behavioral and genetic risk factors, the vast majority of birth defects still occur without known cause. It is possible that birth defects are largely stochastic (and unavoidable) events, at which efforts to investigate their causes would be futile and unjustified. In this commentary we argue for the continued research into risk/preventive factors of human birth defects, and outline why epidemiological studies are suitable for such endeavors. First we discuss what factors to target (genetic or environmental) and how to define the pertinent research questions. Then we present a short review of both epidemiological contributions in the past and approaches to advance the field in the future. After considering also their limitations, we conclude that modern epidemiologic approaches are invaluable to advance our understanding of risk factors for human birth defects, and that interdisciplinary collaborations will also be essential to further our knowledge.