Medical priority fusion: achieving dual optimization of sensitivity and interpretability in nipt anomaly detection
It provides a clinically-deployable solution for prenatal care that meets both accuracy and explainability requirements, though it is incremental as it combines existing methods.
The paper tackled the trade-off between diagnostic performance and interpretability in non-invasive prenatal testing (NIPT) anomaly detection by introducing Medical Priority Fusion (MPF), achieving 89.3% sensitivity and 80% interpretability score on real-world data.
Clinical machine learning faces a critical dilemma in high-stakes medical applications: algorithms achieving optimal diagnostic performance typically sacrifice the interpretability essential for physician decision-making, while interpretable methods compromise sensitivity in complex scenarios. This paradox becomes particularly acute in non-invasive prenatal testing (NIPT), where missed chromosomal abnormalities carry profound clinical consequences yet regulatory frameworks mandate explainable AI systems. We introduce Medical Priority Fusion (MPF), a constrained multi-objective optimization framework that resolves this fundamental trade-off by systematically integrating Naive Bayes probabilistic reasoning with Decision Tree rule-based logic through mathematically-principled weighted fusion under explicit medical constraints. Rigorous validation on 1,687 real-world NIPT samples characterized by extreme class imbalance (43.4:1 normal-to-abnormal ratio) employed stratified 5-fold cross-validation with comprehensive ablation studies and statistical hypothesis testing using McNemar's paired comparisons. MPF achieved simultaneous optimization of dual objectives: 89.3% sensitivity (95% CI: 83.9-94.7%) with 80% interpretability score, significantly outperforming individual algorithms (McNemar's test, p < 0.001). The optimal fusion configuration achieved Grade A clinical deployment criteria with large effect size (d = 1.24), establishing the first clinically-deployable solution that maintains both diagnostic accuracy and decision transparency essential for prenatal care. This work demonstrates that medical-constrained algorithm fusion can resolve the interpretability-performance trade-off, providing a mathematical framework for developing high-stakes medical decision support systems that meet both clinical efficacy and explainability requirements.