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Updated: Sep 30, 2025

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Impact of Congenital Heart Defects on the Developing Brain
Navarri Xavier1, Jovanovic Mubina2, Delrue Marie-Ange3
1Research Center, Sainte-Justine Hospital, Montreal, Quebec, Canada.
Insights
Prenatal brain injuries occur in fetuses with congenital heart defects (CHD), impacting brain development. Third-trimester fetuses showed significantly lower brain weight and white matter lesions, indicating early neuropathology.
Area of Science:
- Neuropathology
- Developmental Biology
- Pediatric Cardiology
Background:
- Congenital heart defects (CHD) are linked to neurodevelopmental delays.
- Previously, these delays were attributed to post-natal cardiac surgery complications.
- Emerging evidence suggests brain anomalies are present at birth.
Purpose of the Study:
- To investigate prenatal brain injuries in fetuses and neonates with congenital cardiopathies.
- To assess the timing and impact of in utero neuropathological lesions.
Main Methods:
- Autopsy and neuropathological examination of 40 fetuses/neonates with congenital cardiopathies.
- Exclusion of syndromic cases to isolate cardiac-related effects.
- Classification of subjects based on gestational term at death.
Main Results:
- No significant difference in mean brain weight across different congenital cardiopathy morphologies.
- Third-trimester subjects exhibited brain weight at or below the fifth percentile.
- Frequent white matter lesions, characteristic of preterm infants, were observed in third-trimester subjects.
Conclusions:
- Prenatal neuropathological lesions impact fetal brain development.
- Findings correlate with existing literature on prenatal imaging and neurodevelopmental outcomes in CHD.
- Establishes a link between congenital cardiopathies and early-onset brain injury.
Objectives:
Congenital heart defects (CHD) are responsible for neurodevelopmental delays that were initially attributed to brain injury resulting from cardiac surgery. However, prenatal imaging have shown that brain anomalies are present at birth. The aim of this study was to assess in utero brain injuries before birth in fetuses/neonates with congenital cardiopathies.
Methods:
A complete autopsy evaluation with detailed study of the cardiopathy and neuropathological study was performed in 40 fetuses/neonates. Syndromic congenital cardiopathies were excluded because of the potential other causes of brain injury. The patients were classified into two groups according to their term at death.
Results:
Statistical analyses indicated the mean brain weight was not significantly different between subjects with different morphological types of congenital cardiopathies. However, the brain weight was at or below the fifth percentile in most third-trimester subjects compared to normal brain weight in second-trimester subjects. Low brain weight in third-trimester subjects was also associated with frequent lesions similar to those described in preterm infants, with a particular involvement of white matter and its components.
Conclusions:
These observations allowed us to establish the timing and impact of prenatal neuropathological lesions on brain development, and to correlate them with imaging data reported in the literature.
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