The association between race/ethnicity and major birth defects in the United States, 1999-2007

Am J Public Health. 2014 Sep;104(9):e14-23. doi: 10.2105/AJPH.2014.302098. Epub 2014 Jul 17.


Objectives: We investigated the relationship between race/ethnicity and 27 major birth defects.

Methods: We pooled data from 12 population-based birth defects surveillance systems in the United States that included 13.5 million live births (1 of 3 of US births) from 1999 to 2007. Using Poisson regression, we calculated prevalence estimates for each birth defect and 13 racial/ethnic groupings, along with crude and adjusted prevalence ratios (aPRs). Non-Hispanic Whites served as the referent group.

Results: American Indians/Alaska Natives had a significantly higher and 50% or greater prevalence for 7 conditions (aPR = 3.97; 95% confidence interval [CI] = 2.89, 5.44 for anotia or microtia); aPRs of 1.5 to 2.1 for cleft lip, trisomy 18, and encephalocele, and lower, upper, and any limb deficiency). Cubans and Asians, especially Chinese and Asian Indians, had either significantly lower or similar prevalences of these defects compared with non-Hispanic Whites, with the exception of anotia or microtia among Chinese (aPR = 2.08; 95% CI = 1.30, 3.33) and Filipinos (aPR = 1.90; 95% CI = 1.10, 3.30) and tetralogy of Fallot among Vietnamese (aPR = 1.60; 95% CI = 1.11, 2.32).

Conclusions: This is the largest population-based study to our knowledge to systematically examine the prevalence of a range of major birth defects across many racial/ethnic groups, including Asian and Hispanic subgroups. The relatively high prevalence of birth defects in American Indians/Alaska Natives warrants further attention.

MeSH terms

  • Birth Certificates
  • Congenital Abnormalities / ethnology*
  • Ethnicity / statistics & numerical data*
  • Humans
  • Population Surveillance
  • Prevalence
  • Racial Groups / statistics & numerical data*
  • Risk Factors
  • United States / epidemiology