Key Findings from Recent Birth Defects and Pediatric Genetics Branch Projects

CDC scientists analyzed trends and patterns of mortality associated with birth defects and genetic diseases in United States from 1979 through 1992.

• Population-based information on trends and patterns of 
  mortality associated with birth defects and genetic diseases is limited. We used Multiple-Cause Mortality Files compiled by the National Center for Health Statistics from U.S. death certificates for 1979 through 1992 to study the trends and patterns of mortality associated with birth defects and genetic diseases.

• The rate of birth defects-associated deaths declined and deaths associated with genetic diseases increased slightly from 1979 to 1992. 

• The declining trend in birth defects-associated deaths 
  may reflect 1) improvements in medical and surgical care, 2) increased use of prenatal diagnosis and subsequent pregnancy termination, and 3) underreporting of deaths associated with birth defects.  

• The increase in genetic diseases-associated deaths was 
  most likely related to improved recognition of some genetic diseases.

• More than 55% of birth defects-associated deaths 
  occurred during the decedents' first year of life. Birth defects were the leading cause of infant mortality, accounting for about 20% of all infant deaths, but a substantial percentage of deaths of older children were also related to birth defects. 

• Improved medical treatments will continue to lead to increased survival of babies with birth defects and may shift further mortality associated with these deaths from infancy to later stages of life.

Results published in: Genetic Epidemiology 1997;14:493-505. (Abstract)