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

Abstract

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.

Male Sex and the Risk of Childhood Cancer: The Mediating Effect of Birth Defects

“…By contrast, the natural indirect effect captures the effect of infant sex on childhood cancer risk that operates through birth defects status. Consistent with previous analyses ( 12 , 20 ), we assessed the effect of sex on birth defects status using logistic regression models and the effect of both sex and birth defects status on childhood cancer risk using Cox proportional hazards models. Person-years were calculated as time from birth to death, cancer diagnosis, or end of study period (December 31, 2011, in Arkansas and Michigan; December 31, 2012, in North Carolina; and December 31, 2013, in Texas).…”

The impact of the ICD‐9‐CM to ICD‐10‐CM transition on the prevalence of birth defects among infant hospitalizations in the United States

“…Patient dates of birth are not provided in the database, so this age‐based restriction was operationalized as a hospitalization in which the age (in years) at admission—a variable that is present in the NIS—was zero. For each hospitalization, we scanned all available diagnosis codes, both primary and secondary, for the presence of one of 46 specific major birth defects that were considered to (a) typically be diagnosed within the first year of life, (b) have high public health importance, and (c) be potentially responsive to prevention and intervention strategies (Stallings et al, ). These criteria were established as part of a collaboration between the NBDPN, CDC, and surveillance programs in the United States to publish state‐level birth defects prevalence estimates annually (Mai et al, ).…”

“…On an annual basis, the National Birth Defects Prevention Network (NBDPN) publishes state‐specific birth defect counts and prevalence estimates for 47 major birth defects, which cover a wide range of organ systems (https://www.nbdpn.org/ar.php). Most birth defects surveillance programs in the United States rely on hospital discharge records either as a primary source of passive case‐reporting or to assist in identifying cases for medical record review and case confirmation for active surveillance (Stallings et al, ). Among the 41 state and territorial population‐based programs providing data to NBDPN, approximately 70% report using passive case‐finding methodology, with or without case confirmation.…”

“…nbdpn.org/ar.php). Most birth defects surveillance programs in the United States rely on hospital discharge records either as a primary source of passive case-reporting or to assist in identifying cases for medical record review and case confirmation for active surveillance (Stallings et al, 2018). Among the 41 state and territorial population-based programs providing data to NBDPN, approximately 70% report using passive case-finding methodology, with or without case confirmation.…”

Exploring classification of birth defects severity in national hospital discharge databases compared to an active surveillance program

“…Three criteria were used to select these birth defects: (a) typically diagnosed within the first year of life, (b) carries high public health importance, and (c) potentially responsive to prevention and intervention strategies. These criteria were established as part of a collaboration between the National Birth Defects Prevention Network (NBDPN), Centers for Disease Control and Prevention (CDC), and surveillance programs in the US to publish state‐level birth defects data annually (Stallings et al, ). Within the NIS database, we scanned the principal diagnosis and up to 29 secondary diagnoses codes documented during each hospitalization for International Classification of Diseases, Ninth Edition, Clinical Modification (ICD‐9‐CM) diagnosis codes indicative of one or more of the birth defects included in this study.…”