The Epidemiology of Birth Defects

  • Edwin C. JesudasonEmail author
Reference work entry


Birth defects are emerging as the leading cause of infant death worldwide. Their epidemiological investigation was prompted by the recognition of congenital rubella syndrome and of thalidomide-related phocomelia. Pediatric surgeons require good data on birth defects as a baseline for reporting their own outcomes. Hence, birth defects data are the foundation to quality control and improvement in neonatal surgery. However, good epidemiological study of birth defects is challenged practically by limited resources and dispersed populations and scientifically by prioritization of reductionist genetic investigations. Instead, it may be more helpful to see birth defects as complex systems problems, akin to surgical errors. As such, better understanding of birth defects may require surgeons equipped with “engineer style” training in statistics, modelling, and complex dynamic systems, rather than the current vogue for molecular biology approaches. Finally, birth defects are sensitive to widely different influences ranging from assisted reproduction to depleted uranium weapons. So for a broad swathe of population health issues, birth defects may provide an early warning signal – that can be heeded only with proper epidemiological measurement.


Birth defects Epidemiology Epigenomics Complex systems Teratology Fetal diagnosis and therapy 


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Authors and Affiliations

  1. 1.NHS LothianEdinburghUK

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