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[Morphologic-echocardiographic correlation of congenital heart defects in fetus and neonates]
Ewa Czichos1, Maria Respondek-Liberska, Andrzej Kulig
1Zakład Patomorfologii Klinicznej Instytutu Centrum Zdrowia Matki Polki w Łodzi.
Insights
Fetal echocardiography shows high compatibility with post-mortem diagnoses in congenital heart disease (CHD) and chromosomal abnormalities. Accuracy is high, with few false negatives, especially when excluding small ventricular septal defects (VSDs).
Area of Science:
- Cardiology
- Prenatal Diagnosis
- Pathology
Background:
- Fetal echocardiography is crucial for diagnosing congenital heart disease (CHD) prenatally.
- Accurate prenatal diagnosis impacts management and counseling for fetal anomalies.
- Validation against post-mortem findings is essential for assessing diagnostic accuracy.
Purpose of the Study:
- To analyze the compatibility between fetal echocardiographic examinations and post-mortem diagnoses.
- To determine the accuracy of prenatal diagnosis in patients with isolated and multiple anomalies, including chromosomal abnormalities.
- To identify specific conditions or anomaly types with higher or lower diagnostic concordance.
Main Methods:
- Retrospective analysis of 94 patients with fetal anomalies.
- Comparison of prenatal diagnoses from fetal echocardiography with post-mortem autopsy findings.
- Categorization of anomalies into isolated, multiple, and chromosomal abnormalities.
Main Results:
- High compatibility (95.7%) between fetal echocardiography and autopsy findings.
- A low rate of false negatives (4.3%) was observed.
- No false positives were found after excluding isolated small ventricular septal defects (VSDs).
- Best compatibility was noted in isolated CHD and chromosomal anomalies.
- Greatest discrepancies were in multiple anomalies, particularly in assessing the conus of the heart and great arteries.
Conclusions:
- Fetal echocardiography is a highly compatible diagnostic tool when compared to post-mortem examinations for congenital heart disease.
- The method demonstrates excellent accuracy, with minimal false negatives, supporting its clinical utility.
- Diagnostic concordance varies with anomaly complexity, highlighting areas for potential improvement in prenatal assessment of complex cardiac structures.
Abstract:
The compatibility of fetal echocardiographic examinations and post mortem diagnoses was analysed in 94 patients with isolated and multiple anomalies, including chromosomal abnormalities. There was a high compatibility between prenatal diagnoses and autopsy findings in 95.7% cases. There was 4.3% of false negatives diagnoses. After exclusion of isolated small VSD's there was no false positives diagnoses. The best compatibility in prenatal and autopsy examinations was present in a group of isolated CHD and chromosomal anomalies and the biggest differences have been noticed in a group of multiple anomalies in the assessment of the conus of the heart and great arteries.