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Medical priority fusion: achieving dual optimization of sensitivity and interpretability in nipt anomaly detection

arXiv 2509.17924 ↗First posted 22 Sep 2025cs.LG q-bio.TOcited by 0

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Abstract (arXiv)

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.

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References · 4

  1. 2017Attention Is All You Needcited by 60,361
  2. 2017A Unified Approach to Interpreting Model Predictionscited by 6,555
  3. 2016XGBoost: A Scalable Tree Boosting Systemcited by 5,166
  4. 2020Ethical Machine Learning in Health Carecited by 113

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