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Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
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Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil

Fabyanne Guimarães de Oliveira1,2, George Octávio da Costa Salecker3, Angel Larroza de Souza1

  • 1Graduate Program in Genetics and Molecular Biology, Genetics Department, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.

BMC Cardiovascular Disorders
|January 8, 2026
PubMed

Insights

Congenital heart defects (CHD) are a major cause of infant death in Brazil. This study found low prenatal diagnosis rates and high mortality, emphasizing the need for better prenatal care and management strategies for CHD.

Area of Science:

  • Cardiology
  • Pediatrics
  • Public Health

Background:

  • Congenital heart defects (CHD) represent the leading cause of birth defect-related infant mortality in Brazil.
  • Access to prenatal diagnosis and specialized treatment for CHD remains limited, particularly in urban areas.

Purpose of the Study:

  • To characterize the profile of live births diagnosed with CHD in three university hospitals in Rio Grande do Sul, Brazil.
  • To analyze maternal risk factors and neonatal variables associated with CHD.

Main Methods:

  • Active surveillance system utilized for data collection from November 2021 to February 2024.
  • Data gathered through medical record reviews and maternal interviews.
  • Statistical analysis included Fisher's exact test and Poisson regression with robust variance.

Main Results:

  • 381 CHD cases identified: 64.3% isolated (iCHD), 35.7% associated (aCHD).
  • Atrial and ventricular septal defects were most common; Down syndrome was frequent in aCHD.
  • Low prenatal diagnosis rate (15%), high false-negative rate, and significant mortality in both iCHD (3.7%) and aCHD (17.8%) groups.

Conclusions:

  • Findings underscore the critical need to enhance access to specialized prenatal care for CHD.
  • Multidisciplinary strategies are essential for effective CHD management and reducing infant mortality.
Abstract

Keywords:
Congenital heart defectsFetal echocardiographyMaternal risk factorsMortalityNewbornsPregnancy

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