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Am J Perinatol 2025; 42(12): 1610-1621
DOI: 10.1055/a-2516-1967
Original Article

Epidemiology of Colpocephaly in the Texas Birth Defects Registry, 1999 to 2020

Caitlyn Yantz 
1   Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas
,
Charles Shumate
1   Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas
,
Dayana Betancourt
1   Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas
,
Rachel Allred
1   Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas
,
Joanne Nguyen
1   Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas
,
A.J. Agopian
2   Department of Epidemiology, University of Texas Health Science Center at Houston, School of Public Health, Houston, Texas
,
Jason Salemi
3   Department of Etiology, College of Public Health and Morsani College of Medicine, University of South Florida, Tampa, Florida
,
Kaashif Ahmad 
4   Neonatal-Perinatal Medicine, The Pediatrix Center for Research, Education, Quality, and Safety, Sunrise, Florida
› Institutsangaben
Funding None.
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Abstract

Objective

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.

Study Design

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).

Results

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.

Conclusion

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.

Key Points

  • 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.

Keywords

colpocephaly - brain reduction defects - CNS defect - congenital brain anomaly

Supplementary Material



Publikationsverlauf

Eingereicht: 18. Oktober 2024

Angenommen: 13. Januar 2025

Artikel online veröffentlicht:
31. Januar 2025

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