Improved national prevalence estimates for 18 selected major birth defects--United States, 1999-2001

MMWR Morb Mortal Wkly Rep. 2006 Jan 6;54(51):1301-5.


Continuing efforts are needed to improve surveillance for birth defects, which are the leading cause of infant mortality in the United States. Although state and local surveillance data indicate that approximately 3% of births are affected by any of 45 birth defects, no national estimates based on population-based birth defects surveillance have been available for specific types of birth defects other than neural tube defects (spina bifida and anencephaly). This report describes estimates of national prevalence and number of affected births in the United States each year during 1999-2001 for 18 selected major birth defects. The findings indicated that 10 of the 18 defects affected more than 1,000 infants each year in the United States. The conditions with the highest prevalence included orofacial clefts, which affect approximately 6,800 infants annually, and Down syndrome, which affects approximately 5,500 infants annually. Population-based national prevalence estimates of birth defects can help determine resource needs for basic and public health research and assist in planning for the health-care and educational needs of the U.S. population.

MeSH terms

  • Congenital Abnormalities / epidemiology*
  • Humans
  • Population Surveillance*
  • Prevalence
  • United States / epidemiology