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

Caitlyn Yantz; Charles Shumate; Dayana Betancourt; Rachel Allred; Joanne Nguyen; A.J. Agopian; Jason Salemi; Kaashif Ahmad

doi:10.1055/a-2516-1967

American Journal of Perinatology, Inhaltsverzeichnis

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

¹Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas

,

Charles Shumate

¹Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas

,

Dayana Betancourt

¹Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas

,

Rachel Allred

¹Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas

,

Joanne Nguyen

¹Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Texas, Austin, Texas

,

A.J. Agopian

²Department of Epidemiology, University of Texas Health Science Center at Houston, School of Public Health, Houston, Texas

,

Jason Salemi

³Department of Etiology, College of Public Health and Morsani College of Medicine, University of South Florida, Tampa, Florida

,

Kaashif Ahmad

⁴Neonatal-Perinatal Medicine, The Pediatrix Center for Research, Education, Quality, and Safety, Sunrise, Florida

› Institutsangaben

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

Volltext

Referenzen

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