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Key Findings: Racial and Ethnic Differences in the Occurrence of Major Birth Defects

3 pregnant women making a heart with their hands over there stomach

The American Journal of Public Health published a new study that examined the occurrence of major birth defects across multiple racial and ethnic groups. Using 12 state-based birth defects tracking systems, this is to date the largest study conducted to look at racial and ethnic differences in the United States for a range of birth defects. Read the abstract for the study here.


Main Findings from this Study

  • Compared with non-Hispanic whites, American Indians/Alaska Natives had a significantly higher occurrence of:
  • Cubans and Asians, especially Chinese and Asian Indians, had significantly lower occurrence of many of the studied birth defects, compared to non-Hispanic whites.
  • Some of the studied birth defects had very different rates of occurrence across the racial and ethnic groups (either much higher or much lower occurrence compared to non-Hispanic whites). Conditions that showed substantial variation across the racial and ethnic groups include anotia/microtia, spina bifida (a defect of the spine), and Down syndrome.
  • The researchers recommend further investigation to determine why there appeared to be a relatively high occurrence of certain birth defects in American Indians/Alaska Natives.
Birth defects that have significantly higher or lower occurrence in selected racial and ethnic groups, compared to non-Hispanic white:
 Much higher occurrence1Much lower occurrence2
Non-Hispanic American Indian/Alaskan Native
Non-Hispanic Asian 
Non-Hispanic Black
1 These conditions were found to have statistically significantly higher occurrences in the noted races and ethnicities compared to non-Hispanic white
2 These conditions were found to have statistically significantly lower occurrences in the noted races and ethnicities compared to non-Hispanic white.
Note: Even though programs try to collect information on all occurrences, some birth defects might not be captured by programs if the outcome is not a live birth. This could underestimate the occurrences of some birth defects.


Baby on mom's shoulder

About this Study

  • Researchers used data from 12 population-based birth defects tracking programs. Population-based means that the researchers look at all babies with birth defects who live in a defined study area, in order to get a complete picture of what is happening among all of the people (the population) living in the study area. Participating states were: Arizona, Colorado, Florida, Georgia (some counties), Illinois, Massachusetts, New York, North Carolina, and Texas. This study included 13.5 million live U.S. births from 1999 to 2007, meaning 1 of every 3 births in the United States during that time period was included in the study.
  • This is the most comprehensive study to date to examine racial and ethnic variation for a wide range of birth defects in the United States, particularly among under-studied racial and ethnic groups including American Indians/Alaska natives, Hispanic subgroups, and Asian subgroups.


Reference for Key Findings

Canfield MA, Mai CT, Wang Y, O’Halloran M, Marengo LK, Olney RS, Borger CL, Rutkowski R, Fornoff J, Irwin N, Copeland G, Flood TJ, Meyer RE, Rickard R, Alverson CJ, Sweatlock J, Kirby RS. The Association Between Race/Ethnicity and Major Birth Defects in the United States, 1999-2007. American Journal of Public Health. 2014 [epub ahead of print].


Birth Defects: CDC’s Activities

CDC works to identify causes of birth defects, find opportunities to prevent them, and improve the health of those living with birth defects.


More Information

For more information on birth defects, visit



Aortic valve stenosis: The aorta is the main artery carrying blood out of the heart. When blood leaves the heart, it flows through the aortic valve, into the aorta. When there is aortic stenosis, the aortic valve does not open fully. This decreases blood flow from the heart.

Esophageal atresia: The esophagus is the tube that normally carries food from the mouth to the stomach. When there is esophageal atresia, the esophagus is closed off and milk or food cannot get to the stomach.

Pyloric stenosis: Pyloric stenosis is a disorder in which a muscle at the bottom of the stomach is enlarged, obstructing the outlet of the stomach so that milk or other food cannot pass from the stomach to the small intestine.

Trisomy 18: Trisomy 18 is a condition where a baby is born with an extra 18 chromosome, which can cause some birth defects and affects how the baby grows and develops. The U.S. Government's Official Web PortalDepartment of Health and Human Services
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