Center for Health & Bioresources, Competence Unit Molecular Diagnostics, AIT Austrian Institute of Technology GmbH, 1210 Vienna, Austria.
Comprehensive Center for Pediatrics, Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Intensive Care and Neuropediatrics, Medical University of Vienna, 1090 Vienna, Austria.
Int J Mol Sci. 2024 Sep 25;25(19):10304. doi: 10.3390/ijms251910304.
Intraventricular hemorrhage (IVH) in preterm neonates presents a high risk for developing posthemorrhagic ventricular dilatation (PHVD), a severe complication that can impact survival and long-term outcomes. Early detection of PHVD before clinical onset is crucial for optimizing therapeutic interventions and providing accurate parental counseling. This study explores the potential of explainable machine learning models based on targeted liquid biopsy proteomics data to predict outcomes in preterm neonates with IVH. In recent years, research has focused on leveraging advanced proteomic technologies and machine learning to improve prediction of neonatal complications, particularly in relation to neurological outcomes. Machine learning (ML) approaches, combined with proteomics, offer a powerful tool to identify biomarkers and predict patient-specific risks. However, challenges remain in integrating large-scale, multiomic datasets and translating these findings into actionable clinical tools. Identifying reliable, disease-specific biomarkers and developing explainable ML models that clinicians can trust and understand are key barriers to widespread clinical adoption. In this prospective longitudinal cohort study, we analyzed 1109 liquid biopsy samples from 99 preterm neonates with IVH, collected at up to six timepoints over 13 years. Various explainable ML techniques-including statistical, regularization, deep learning, decision trees, and Bayesian methods-were employed to predict PHVD development and survival and to discover disease-specific protein biomarkers. Targeted proteomic analyses were conducted using serum and urine samples through a proximity extension assay capable of detecting low-concentration proteins in complex biofluids. The study identified 41 significant independent protein markers in the 1600 calculated ML models that surpassed our rigorous threshold (AUC-ROC of ≥0.7, sensitivity ≥ 0.6, and selectivity ≥ 0.6), alongside gestational age at birth, as predictive of PHVD development and survival. Both known biomarkers, such as neurofilament light chain (NEFL), and novel biomarkers were revealed. These findings underscore the potential of targeted proteomics combined with ML to enhance clinical decision-making and parental counseling, though further validation is required before clinical implementation.
脑室出血(IVH)在早产儿中存在发生出血后脑室扩张(PHVD)的高风险,这是一种严重的并发症,会影响生存和长期预后。在临床症状出现前早期发现 PHVD 对于优化治疗干预和提供准确的家长咨询至关重要。本研究探讨了基于靶向液体活检蛋白质组学数据的可解释机器学习模型预测 IVH 早产儿结局的潜力。近年来,研究集中在利用先进的蛋白质组学技术和机器学习来改善新生儿并发症的预测,特别是与神经结局相关的预测。机器学习(ML)方法与蛋白质组学相结合,提供了一种识别生物标志物和预测患者特定风险的强大工具。然而,在整合大规模、多组学数据集并将这些发现转化为可操作的临床工具方面仍然存在挑战。确定可靠的、疾病特异性的生物标志物并开发临床医生可以信任和理解的可解释的 ML 模型是广泛临床应用的关键障碍。在这项前瞻性纵向队列研究中,我们分析了 99 例 IVH 早产儿的 1109 份液体活检样本,这些样本在 13 年内最多采集了 6 个时间点。采用了各种可解释的 ML 技术,包括统计、正则化、深度学习、决策树和贝叶斯方法,来预测 PHVD 的发展和生存,并发现疾病特异性的蛋白质生物标志物。通过一种能够检测复杂生物流体中低浓度蛋白质的邻近延伸测定法,对血清和尿液样本进行了靶向蛋白质组学分析。该研究在 1600 个计算的 ML 模型中确定了 41 个具有统计学意义的独立蛋白质标志物,这些标志物超过了我们严格的阈值(AUC-ROC≥0.7、敏感性≥0.6 和选择性≥0.6),以及出生时的胎龄,可预测 PHVD 的发展和生存。发现了神经丝轻链(NEFL)等已知生物标志物和新的生物标志物。这些发现强调了靶向蛋白质组学与 ML 相结合增强临床决策和家长咨询的潜力,但在临床实施之前还需要进一步验证。