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Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort
C L van Velzen1, S A Clur2, M E B Rijlaarsdam3
1Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands.
Insights
Fetal echocardiography accurately diagnosed congenital heart disease (CHD) in 92% of cases across three centers. However, certain CHDs remain challenging to detect prenatally, emphasizing the need for increased awareness and education.
Area of Science:
- Cardiology
- Prenatal Diagnosis
- Medical Imaging
Background:
- Congenital heart disease (CHD) is a significant concern in prenatal care.
- Accurate prenatal diagnosis of CHD is crucial for appropriate management and outcomes.
Purpose of the Study:
- To evaluate the diagnostic accuracy of fetal echocardiography for congenital heart disease (CHD).
- To assess the concordance between prenatal and postnatal diagnoses of CHD in tertiary care settings.
Main Methods:
- A multicenter cohort study involving 708 cases of CHD with available prenatal and postnatal data.
- Comparison of prenatal fetal echocardiography diagnoses with confirmed postnatal diagnoses.
- Classification of diagnostic agreement into 'correct', 'discrepant', or 'no similarity' categories.
Main Results:
- Fetal echocardiography provided a correct diagnosis in 82.1% of CHD cases.
- Discrepancies occurred in 9.9% without altering patient outcomes; complete disagreement was noted in 8.1%.
- Diagnostic disagreements were more frequent with normal four-chamber views and in cases with extracardiac anomalies or high maternal BMI.
Conclusions:
- Fetal echocardiography demonstrated appropriate diagnostic accuracy and prognostic estimation in 92% of evaluated congenital heart disease cases.
- Specific types of CHD present diagnostic challenges, underscoring the importance of ongoing education and awareness among healthcare providers.
Objective:
To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.
Methods:
This was a multicenter cohort study of tertiary echocardiography referrals between 2002 and 2012. Prenatal and postnatal diagnoses were compared and the degree of agreement was classified as 'correct' (anatomy correct and the postnatal diagnosis led to a similar outcome as expected), 'discrepant' (anatomical discrepancies present but the severity and prognosis of the defect were diagnosed correctly) or 'no similarity' (the pre- and postnatal diagnoses differed completely).
Results:
We included 708 cases with CHD for which both prenatal and postnatal data were available. The prenatal diagnosis was correct in 82.1% of cases and discrepancies present were present in 9.9%; however, these did not result in a different outcome. In 8.1% there was no similarity between prenatal and postnatal diagnoses. Disagreement between pre- and postnatal diagnoses occurred significantly more frequently in cases that presented with a normal four-chamber view than in those with an abnormal four-chamber view (5.5% vs 1.9%). Incorrect identification of the outflow tracts and incorrect differentiation between unbalanced atrioventricular septal defect and hypoplastic left heart syndrome were relatively commonly encountered. In many cases with disagreement, trisomy 21, extracardiac anomaly or a high maternal body mass index was present.
Conclusions:
The prenatal diagnosis and estimated prognosis of fetal echocardiography in our tertiary referral centers were appropriate in 92% of cases. Some types of CHD remain difficult to diagnose or rule-out prenatally, therefore awareness and education are of considerable importance. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
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