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Diagnostic Errors in Fetal Echocardiography and the Effect on Neonatal Management: Ten-Year Experience from a Middle-Income Country

Mohd Nizam Mat Bah*, Mohd Hanafi Sapian, Hasliza Razak, Emieliyuza Yusnita Alias

Pediatric Department, Hospital Sultanah Aminah, Ministry of Health, Jalan Persiaran Abu Bakar Sultan, Johor Bahru, 80100, Malaysia

* Corresponding Author: Mohd Nizam Mat Bah. Email:

Congenital Heart Disease 2020, 15(4), 203-216.


Introduction: Fetal echocardiogram allows early detection of critical congenital heart disease leading to a better outcome. However, data from lowerand middle-income countries is scarce. This study aims to evaluate the diagnostic error of fetal echocardiography and its impact on planned neonatal management. Methods and material: This retrospective observational cohort study includes all high-risk pregnant mothers who had fetal echocardiograms from 2008 to 2017. Fetal and postnatal echocardiograms were compared, while the diagnostic errors were categorized into false positive, false negative, and discrepant diagnoses. The impact of the diagnostic error on planned neonatal management and the long-term outcome was determined by comparing the outcome of expected and actual management. Results: A total of 2622 fetuses were included with the majority in the second half of the study. The mean gestational age of 2622 fetuses was 26.7 ± 3.42 weeks. Of 2622, 191 (7.3%) had congenital heart disease. Of 191, 130 (68%) were major lesions. Confirmatory postnatal echocardiogram was available in 153 fetuses with congenital heart disease and 905 fetuses with a normal heart. Of 1058, 123 were true positives, 30 were false positives, 26 were false negatives, and 879 were true negatives. Hence, the sensitivity, specificity, positive and negative likelihood ratio of fetal echocardiogram for detection of CHD in this study was 82.5% (95% confidence interval [CI]: 75.5% to 88.3%), 96.7% (95% CI: 95.3% to 97.8%), 25.0 (95% CI: 17.5 to 35.8) and 0.18 (95% CI: 0.13 to 0.26) respectively. Most of the false positives and negatives were mild lesions. There were 27% discrepant diagnosis between fetal and postnatal echocardiograms (8.1% partially different, and 18.7% no similarity), leading to 8.9% changes in planned neonatal management and 8.1% severity score. Most of the discrepant diagnoses were complex lesions. Conclusions: Despite relatively new services and limited resources, the diagnostic errors of fetal echocardiography in this study are comparable with centers in high-income countries. However, active participation of all stakeholders, changes in policy, and training are needed to improve fetal echocardiography services further. These are vital before the introduction of the national screening program.


Cite This Article

Nizam, M., Sapian, M. H., Razak, H., Alias, E. Y. (2020). Diagnostic Errors in Fetal Echocardiography and the Effect on Neonatal Management: Ten-Year Experience from a Middle-Income Country. Congenital Heart Disease, 15(4), 203–216.

This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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