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Birth Defects Res. 2018 Nov 15;110(19):1478-1486. doi: 10.1002/bdr2.1413. Epub 2018 Nov 16.

Population-based birth defects data in the United States, 2011-2015: A focus on eye and ear defects.

Author information

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Carter Consulting, Incorporated, Atlanta, Georgia.
Massachusetts Department of Public Health, Center for Birth Defects Research and Prevention, Boston, Massachusetts.
Texas Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Austin, Texas.
Department of Family and Community Medicine, Baylor College of Medicine, Houston, Texas.
Department of Community and Family Health, College of Public Health, University of South Florida, Tampa, Florida.
Oak Ridge Institute for Science and Education, Oak Ridge, Tennessee.
Arkansas Center for Birth Defects Research and Prevention, the Arkansas Children's Research Institute and the University of Arkansas for Medical Sciences, Department of Epidemiology, Little Rock, Arkansas.
Division of Public Health, North Carolina Department of Health and Human Services, Raleigh, North Carolina.
College of Public Health, University of Iowa, Iowa City, Iowa.
Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah.
Oklahoma Birth Defects Registry, Oklahoma State Department of Health, Oklahoma City, Oklahoma.
Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas.



In this data brief, we examine major eye and ear anomalies (anophthalmia/microphthalmia, anotia/microtia, and congenital cataract) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States.


As a special call for data for the 2018 NBDPN Annual Report, state programs reported expanded data on eye/ear anomalies for birth years 2011-2015. We calculated the combined overall prevalence (per 10,000 live births) and 95% confidence intervals (CI), for the three anomalies as well as by maternal age, maternal race/ethnicity, infant sex, laterality, presence/absence of other major birth defects, and case ascertainment methodology utilized by the program (active vs. passive).


The overall prevalence estimate (per 10,000 live births) was 1.5 (95% CI: 1.4-1.5) for anophthalmia/microphthalmia, 1.5 (95% CI: 1.4-1.6) for congenital cataract, and 1.8 (95% CI: 1.7-1.8) for anotia/microtia. Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/microphthalmia and anotia/microtia. Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/microphthalmia (1.9 vs. 1.2) and two-fold higher for anotia/microtia (2.6 vs. 1.2). Anophthalmia/microphthalmia was more likely than other conditions to co-occur with other birth defects. All conditions were more frequent among older mothers (40+ years).


This data brief provides recent prevalence estimates for anophthalmia/microphthalmia, congenital cataract, and anotia/microtia that address a data gap by examining pooled data from 30 population-based surveillance systems, covering a five-year birth cohort of about 12.4 million births.


anophthalmia; anotia; birth defects; cataract; congenital; microphthalmia; microtia; population-based surveillance


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