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

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


Background/objectives: 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.

Methods: 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).

Results: 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).

Conclusions: 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.

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

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Anophthalmos / epidemiology*
  • Case-Control Studies
  • Cataract / epidemiology
  • Congenital Abnormalities / epidemiology
  • Congenital Microtia / epidemiology*
  • Ear / abnormalities
  • Eye Abnormalities
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Logistic Models
  • Male
  • Maternal Age
  • Microphthalmos / epidemiology*
  • Mothers
  • Odds Ratio
  • Population Surveillance / methods
  • Pregnancy
  • Prevalence
  • Registries
  • Risk Factors
  • United States