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Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study
Nina E Forestieri1, Tania A Desrosiers2, Sharon F Freedman3
1North Carolina Birth Defects Monitoring Program, State Center for Health Statistics, Raleigh, North Carolina.
Insights
This study identified several non-genetic risk factors for primary congenital glaucoma (PCG), a serious birth defect. Factors like low birth weight and maternal health conditions were associated with increased PCG risk.
Area of Science:
- Ophthalmology
- Pediatrics
- Genetics
Background:
- Primary congenital glaucoma (PCG) is a rare but severe ocular birth defect.
- While genetic factors are known, nongenetic risk factors for PCG remain largely unexplored.
- Understanding these factors is crucial for prevention and early intervention strategies.
Purpose of the Study:
- To investigate potential nongenetic risk factors associated with primary congenital glaucoma (PCG).
- To analyze these associations in a large, population-based cohort within the United States.
- To differentiate risk factors for all PCG cases versus isolated PCG.
Main Methods:
- Utilized data from the National Birth Defects Prevention Study (NBDPS), a case-control study.
- Included 107 infants with PCG and 10,084 control infants without birth defects (2000-2011).
- Collected data via maternal interviews on clinical, demographic, and health history; employed adjusted odds ratios (aORs) for analysis.
Main Results:
- Identified significant associations between PCG and term low birth weight, non-Hispanic Black maternal race/ethnicity, maternal history of seizure, maternal antihypertensive use, and maternal sexually transmitted infections.
- These factors were also associated with isolated PCG.
- Maternal use of nonsteroidal anti-inflammatory drugs was additionally linked to isolated PCG.
Conclusions:
- This study highlights several significant nongenetic risk factors for primary congenital glaucoma.
- Findings suggest that factors beyond genetics play a role in PCG development.
- These identified risk factors provide targets for future research and potential public health interventions.
Abstract:
Primary congenital glaucoma (PCG) is a rare but serious birth defect. Genetic mutations have been implicated in the development of PCG, but little is known about nongenetic risk factors. This study investigates potential risk factors for PCG in the National Birth Defects Prevention Study (NBDPS), a large population-based case-control study of major birth defects in the United States. The analysis includes case infants with PCG (N = 107) and control infants without birth defects (N = 10,084) enrolled in NBDPS from birth years 2000-2011. Pregnancy/infant clinical characteristics, demographics, and parental health history were collected through maternal interview. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were computed to examine associations with all PCG cases and isolated PCG cases without other major malformations. Associations with all the cases included term low birth weight (<2,500 g; aOR = 2.80, CI 1.59-4.94), non-Hispanic black maternal race/ethnicity (aOR = 2.42, CI 1.42-4.13), maternal history of seizure (aOR = 2.73, CI 1.25-5.97), maternal antihypertensive use (aOR = 3.60, CI 1.52-8.53), and maternal sexually transmitted infection (aOR = 2.75, CI 1.17-6.44). These factors were also associated with isolated PCG, as was maternal use of nonsteroidal anti-inflammatory drugs (aOR = 2.70, CI 1.15-6.34). This study is among the first to examine a wide array of potential risk factors for PCG in a population-based sample.
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