用生成模型提取脑部MRI潜在特征,辅助唐氏综合征诊断
Generative Latent Representations of 3D Brain MRI for Multi-Task Downstream Analysis in Down Syndrome
- 构建多个变分自编码器,将3D脑MRI压缩为可解释的潜在表示
- 重建图像保真度高,潜在空间能清晰区分唐氏综合征与正常人群
- 成果适合神经影像分析、临床辅助诊断等场景
生成模型在医学影像中展现出强大潜力,可用于分割、异常检测和高质量合成数据生成。这些模型依赖于学习有意义的潜在表示,尤其适用于高维的3D脑部磁共振成像(MRI)数据。尽管如此,潜在表示的结构、信息内容及其在下游临床任务中的适用性仍研究不足。本研究开发了多种变分自编码器(VAEs),将3D脑部MRI编码为紧凑的潜在空间表示,用于生成与预测任务。通过三项关键分析评估:(i) MRI重建质量的定量与定性评估,(ii) 使用主成分分析可视化潜在空间结构,(iii) 在自有数据集上对正常人与唐氏综合征个体的脑部MRI进行下游分类任务。结果表明,该VAE成功捕捉了关键脑部特征,并保持了高重建保真度;潜在空间呈现出清晰的聚类模式,尤其在区分唐氏综合征患者与正常对照组方面表现显著。
原文摘要 · Abstract (English)
Generative models have emerged as powerful tools in medical imaging, enabling tasks such as segmentation, anomaly detection, and high-quality synthetic data generation. These models typically rely on learning meaningful latent representations, which are particularly valuable given the high-dimensional nature of 3D medical images like brain magnetic resonance imaging (MRI) scans. Despite their potential, latent representations remain underexplored in terms of their structure, information content, and applicability to downstream clinical tasks. Investigating these representations is crucial for advancing the use of generative models in neuroimaging research and clinical decision-making. In this work, we develop multiple variational autoencoders (VAEs) to encode 3D brain MRI scans into compact latent space representations for generative and predictive applications. We systematically evaluate the effectiveness of the learned representations through three key analyses: (i) a quantitative and qualitative assessment of MRI reconstruction quality, (ii) a visualisation of the latent space structure using Principal Component Analysis, and (iii) downstream classification tasks on a proprietary dataset of euploid and Down syndrome individuals brain MRI scans. Our results demonstrate that the VAE successfully captures essential brain features while maintaining high reconstruction fidelity. The latent space exhibits clear clustering patterns, particularly in distinguishing individuals with Down syndrome from euploid controls.
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