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.


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Mark A. Canfield, PhD, Cara T. Mai, MPH, Ying Wang, PhD, Alissa O’Halloran, MPH, Lisa K. Marengo, MS, Richard S. Olney, MD, Christopher L. Borger, MPH, Rachel Rutkowski, MSPH, Jane Fornoff, PhD, Nila Irwin, Glenn Copeland, MBA, Timothy J. Flood, MD, Robert E. Meyer, PhD, Russel Rickard, MS, C. J. Alverson, MS, Joseph Sweatlock, PhD, and Russell S. Kirby, PhD for the National Birth Defects Prevention NetworkMark A. Canfield and Lisa K. Marengo are with the Texas Department of State Health Services, Austin. Cara T. Mai, Alissa O’Halloran, Richard S. Olney, and C. J. Alverson are with the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA. Ying Wang is with the New York State Department of Health, Albany. Christopher L. Borger is with the Massachusetts Department of Public Health, Boston. Rachel Rutkowski is with the Florida Department of Health, Tallahassee. Jane Fornoff is with the Illinois Department of Public Health, Springfield. Nila Irwin is with the Nebraska Department of Health and Human Services, Lincoln. Glenn Copeland is with the Michigan Birth Defects Registry, Michigan Department of Community Health, Lansing. Timothy J. Flood is with the Arizona Department of Health Services, Phoenix. Robert E. Meyer is with the North Carolina Birth Defects Monitoring Program, Raleigh. Russel Rickard is with the Colorado Department of Public Health and Environment, Denver. Joseph Sweatlock is with the New Jersey Department of Health, Trenton. Russell S. Kirby is with the Department of Community and Family Health, University of South Florida, Tampa. “The Association Between Race/Ethnicity and Major Birth Defects in the United States, 1999–2007”, American Journal of Public Health 104, no. 9 (September 1, 2014): pp. e14-e23.


PMID: 25033129