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Postmortem Assessment of Isolated Congenital Heart Defects Remains Essential Following Termination of Pregnancy
Camilla Struksnæs1, Harm-Gerd K Blaas1,2, Sturla H Eik-Nes1,2
1Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.
Insights
Prenatal ultrasound (US) accurately correlates with autopsy findings in fetuses with congenital heart defects (CHDs). This high accuracy supports informed decisions for pregnancy termination when isolated CHDs are detected.
Area of Science:
- Medical Imaging
- Fetal Medicine
- Pathology
Background:
- Congenital heart defects (CHDs) are common fetal anomalies.
- Accurate prenatal diagnosis is crucial for management and counseling.
- Correlation between prenatal ultrasound (US) and autopsy is vital for validating diagnostic accuracy.
Purpose of the Study:
- To assess the concordance between prenatal US and autopsy findings.
- To evaluate diagnostic accuracy in isolated CHDs and those with heterotaxy syndrome.
- To inform clinical practice regarding fetal cardiac anomaly diagnosis.
Main Methods:
- Retrospective analysis of 67 fetuses with prenatally diagnosed CHDs.
- Categorization of CHDs using ICD-10.
- Assessment of US and autopsy finding concordance.
Main Results:
- High agreement (97.4%) between prenatal US and autopsy findings.
- Hypoplastic left heart syndrome was the most frequent diagnosis.
- Discrepancies did not alter pregnancy termination decisions.
Conclusions:
- Prenatal US shows high correlation with autopsy in isolated CHDs.
- Thorough cardiac assessment is essential for termination decisions.
- Specialized tertiary centers are recommended for accurate fetal evaluation.
Objectives:
To investigate the correlation between prenatal ultrasound (US) and autopsy findings in pregnancies terminated due to isolated congenital heart defects (CHDs), including CHDs associated with heterotaxy syndrome.
Materials And Methods:
The material consists of 67 fetuses with prenatally detected isolated CHDs or CHDs associated with heterotaxy syndrome at a tertiary center in Norway between 1985 and 2014. The main CHDs were categorized into subdiagnoses of CHDs in accordance with ICD-10. The US and autopsy findings were categorized according to degree of concordance.
Results:
Gestational age at termination was 12 + 0-22 + 6 weeks. Hypoplastic left heart syndrome was the most common main diagnosis among the 67 fetuses (32.8%). There was full agreement between US and autopsy findings in 97.4% (222/228) of all subdiagnoses. The discrepant findings in three fetuses had no influence on the decision to terminate the pregnancy.
Conclusions:
The correlation was high between prenatal US and postmortem findings in fetuses with isolated CHDs. Meticulous assessment of cardiac anatomy is particularly necessary when the decision to terminate relies on isolated CHDs. The trend of earlier termination challenges verification of diagnoses at autopsy. Consequently, the fetus should be examined at a tertiary center with fetal medicine specialists, pediatric cardiologists and perinatal pathologists.
