Timing of Critical Congenital Heart Defect Detection: A Multisite Population-Based Study

Shannon E Moss1, Elizabeth Ailes1, Karrie F Downing1

  • 1Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA.

The Journal of Pediatrics
|September 19, 2025
PubMed

Insights

Prenatal detection of critical congenital heart defects (CCHD) increased, but late detection remains a concern, particularly for uninsured mothers. Early CCHD diagnosis is vital for infant health outcomes.

Area of Science:

  • Pediatric Cardiology
  • Public Health
  • Medical Diagnostics

Background:

  • Critical congenital heart defects (CCHD) are a significant cause of infant mortality and morbidity.
  • Early detection of CCHD is crucial for timely intervention and improved outcomes.
  • Variations in detection timing, including prenatal, timely postnatal, and late postnatal, impact management strategies.

Purpose of the Study:

  • To determine the prevalence and trends of prenatal and late CCHD detection.
  • To identify demographic and clinical factors associated with prenatal and late CCHD detection.
  • To understand disparities in CCHD detection timing.

Main Methods:

  • Analysis of infants with CCHD from the Birth Defects Study To Evaluate Pregnancy exposureS (2014-2021).
  • Categorization of CCHD detection timing: prenatal, timely postnatal (0-3 days), and late (>3 days).
  • Statistical modeling (log-linear and log-binomial) to assess trends and prevalence ratios.

Main Results:

  • Prenatal CCHD detection rose from 25.0% in 2014 to 39.1% in 2021.
  • Late CCHD detection prevalence decreased slightly but remained significant (22.7% in 2014 to 16.4% in 2021).
  • Infants with extracardiac defects had higher prenatal detection rates; late detection was more common in infants of uninsured mothers.

Conclusions:

  • Significant disparities in CCHD detection timing exist based on defect characteristics and maternal insurance status.
  • Improved prenatal detection methods are needed to identify a wider range of CCHD types.
  • Enhancing access to prenatal care is essential to reduce late CCHD detection and improve early diagnosis.
Abstract