Artificial intelligence for the detection of fetal ultrasound findings concerning major congenital heart defects. A systematic review.
DOI:
https://doi.org/10.51168/sjhrafrica.v5i12.2415Keywords:
Artificial intelligence, Congenital heart defects, Deep learning, Fetal echocardiography, Fetal ultrasound, Prenatal screeningAbstract
Background: Prenatal detection of major congenital heart defects (CHDs) remains suboptimal despite routine fetal ultrasound screening, largely due to operator dependence, variability in expertise, and subtle morphologic presentations. Artificial intelligence (AI) has emerged as a potential adjunct to improve screening performance by identifying ultrasound findings concerning major CHDs.
Objective: To systematically review and synthesize current evidence on the role of artificial intelligence in detecting fetal ultrasound findings concerning major congenital heart defects.
Methods: A systematic literature search was conducted across PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar in accordance with PRISMA 2020 guidelines. Original peer-reviewed studies evaluating AI-based models applied to fetal ultrasound or fetal echocardiography for the detection of major CHDs or suspicious findings were included. Data were synthesized qualitatively, and the risk of bias was assessed using an adapted QUADAS-2 framework.
Results: This systematic review was not prospectively registered. Five studies published between 2021 and 2026 met the inclusion criteria. AI models demonstrated consistently high diagnostic performance, with reported sensitivities ranging from approximately 84% to 96.8% and specificity generally exceeding 90%. Models focusing on the detection of concerning ultrasound findings rather than lesion-specific diagnosis demonstrated particularly high screening sensitivity. Overall risk of bias was low to moderate.
Conclusion: Artificial intelligence showed strong potential as a screening adjunct for improving prenatal detection of major congenital heart defects, warranting further prospective validation in real-world clinical settings.
Implications and future research (addition):“These findings support the potential role of artificial intelligence–assisted fetal echocardiography as an adjunct to conventional ultrasound screening for major congenital heart defects. However, heterogeneity in study design, AI architectures, outcome reporting, and validation strategies limits direct clinical translation. Future research should prioritize large-scale prospective studies, external validation across diverse populations, standardized performance metrics, and evaluation of real-world clinical integration, including cost-effectiveness and ethical considerations.
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