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Updated: Oct 6, 2025

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Prevalence of critical congenital heart defects and selected co-occurring congenital anomalies, 2014-2018: A U.S.

Erin Bugenske Stallings1, Jennifer L Isenburg1, Deepa Aggarwal2

  • 1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

Birth Defects Research
|January 20, 2022
PubMed

Insights

Critical congenital heart defects (CCHDs) affect 1 in 10,000 births, with higher prevalence in American Indian/Alaska Native infants. Over 15% of CCHD cases also have chromosomal defects, highlighting the need for further research.

Area of Science:

  • Pediatrics
  • Public Health
  • Genetics

Background:

  • Critical congenital heart defects (CCHDs) are a leading cause of infant morbidity and mortality.
  • Early diagnosis and intervention are crucial for improving outcomes in affected newborns.
  • This study provides updated prevalence estimates using recent surveillance data.

Purpose of the Study:

  • To estimate the prevalence of 12 critical congenital heart defects (CCHDs) using population-based surveillance data.
  • To analyze CCHD prevalence by maternal and infant characteristics.
  • To determine the co-occurrence of CCHDs with cardiovascular and chromosomal birth defects.

Main Methods:

  • Data from 19 U.S. birth defect surveillance programs (2014-2018) were analyzed.
  • Prevalence was calculated per 10,000 live births.
  • Co-occurrence rates of chromosomal defects were assessed in active case ascertainment programs.

Main Results:

  • Overall CCHD prevalence was 19.6 per 10,000 live births.
  • American Indian/Alaska Native mothers had the highest CCHD prevalence (28.3 per 10,000).
  • 15.8% of CCHD cases had co-occurring chromosomal defects.

Conclusions:

  • This study offers updated CCHD prevalence data, stratified by key characteristics.
  • Findings highlight ethnic disparities and high rates of co-occurring chromosomal defects.
  • Data can inform future research on CCHD risk factors and prevention strategies.
Abstract

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