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Epidemiology of Colpocephaly in the Texas Birth Defects Registry, 1999 to 2020
Caitlyn Yantz1, Charles Shumate1, Dayana Betancourt1
1Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas.
Insights
Colpocephaly, a congenital brain defect, affects 1.36/10,000 Texas infants. Survival rates vary significantly based on maternal and infant factors, highlighting the need for further research into rare brain defects.
Area of Science:
- Pediatric Neurology
- Developmental Biology
- Public Health Surveillance
Background:
- Colpocephaly is a rare congenital central nervous system (CNS) defect characterized by enlarged occipital horns of the lateral ventricles.
- Population-based studies on colpocephaly prevalence and survival are limited.
- Understanding the epidemiology of CNS defects is crucial for public health initiatives.
Purpose of the Study:
- To determine the birth prevalence of colpocephaly in Texas infants.
- To evaluate the 1-year survival rates for infants diagnosed with colpocephaly.
- To identify maternal and infant factors associated with colpocephaly prevalence and survival.
Main Methods:
- Utilized data from the Texas Birth Defects Registry (TBDR) for cases diagnosed with colpocephaly between 1999 and 2020.
- Calculated unadjusted birth prevalence and 1-year survival estimates.
- Analyzed maternal and infant variables across different medical classification groups.
Main Results:
- Identified 1,146 cases of colpocephaly, with an overall birth prevalence of 1.36 per 10,000 live births.
- Higher prevalence observed in male infants, those with low birth weight, and very preterm infants.
- One-year survival was 89.5%, with significant variations linked to maternal education, geographic residence, birth weight, and gestational age.
Conclusions:
- The study provides crucial data on colpocephaly prevalence and prognosis in Texas, aiding in clinical counseling.
- Findings suggest the overall burden of CNS defects may be underestimated.
- Further longitudinal research is recommended to fully understand the long-term outcomes and prevalence of colpocephaly.
Abstract:
Colpocephaly is a congenital brain defect characterized by enlargement of the occipital horns of the lateral ventricles. Few population-based studies have focused on this central nervous system (CNS) defect. This study aimed to evaluate the birth prevalence and survival of Texas infants with colpocephaly delivered between 1999 and 2020.Cases from the Texas Birth Defects Registry (TBDR) with a diagnosis of colpocephaly were identified. Unadjusted birth prevalence, 1-year survival estimates, and crude hazard ratios with 95% confidence intervals (CIs) were calculated from data collected from the medical record abstraction and linked vital records. Select maternal and infant variables were assessed overall and across four medical classification groups (presence of isolated, chromosomal, syndromic, or multiple major defects).From 1999 to 2020, 1,146 cases with colpocephaly were identified. The overall birth prevalence of colpocephaly was 1.36/10,000 live births (95% CI: 1.28-1.44). Significantly higher prevalence was noted for male infants, infants with low birth weight (<2,500 g), and very preterm (<32 weeks) infants. Overall, 1-year survival was 89.5%, with statistically significant differences observed in each medical classification group (e.g., isolated) across levels of maternal education, Texas/Mexico border maternal residence at delivery, infant birth weight, and gestational age.These findings have important implications for pediatric neurology and future research, such as counseling on the prevalence and prognosis of colpocephaly. Additionally, these findings highlight that the population burden of CNS defects may be higher than previously believed, supporting the expansion of research of rare brain defects. · The overall birth prevalence of colpocephaly for Texas infants delivered between 1999 and 2020 was 1.36/10,000 live births.. · Statistically significant differences in 1-year survival were observed across select maternal and infant variables.. · Longitudinal studies are necessary to fully ascertain the prevalence of colpocephaly beyond the first year of life..
