SEMI-AUTOMATED PRENATAL SCREENING USING MATERNAL BLOOD

该项目的目标是开发自动化仪器和数字图像分析技术，以支持从母体血液中快速检测胎儿细胞，用于产前诊断。目前该领域研究的最终目标是使低成本、低风险的产前基因筛查得到广泛应用。目前的重点是简单、快速、实用的胎儿细胞培养和基因测试方法。该项目结合了一种新的样品制备方法和快速的自动细胞检测，用于FISH对非整倍体的交互式评估。我们的方法包括通过常规密度梯度离心法分离胎儿细胞，然后进行简单的May-Giemsa标本染色。自动筛选过程使用透射光(而不是荧光)来寻找细胞，使其成本更低、速度更快(由于集成时间较短)。然后，基因检测可以是自动鱼点计数或目测分析。第一阶段项目将评估这种方法用于非侵入性产前检测的可行性。在第二阶段，我们将建造一个原型，并在临床环境中进行测试。第三阶段将专注于该系统的商业化，使几乎所有人都能获得胎儿筛查。这种创新的技术方法有可能给产前诊断的未来带来革命性的变化。拟议的商业应用一旦这些技术被开发出来并具备常规应用的资格，它们将被纳入PSI的细胞遗传学自动化设备的Powergene产品线中，用于出售的新系统，并作为对细胞遗传学实验室已在使用的现有系统的升级。因此，在该项目下开发的技术将很快实现商业化。

The goal of this project is to develop automated instrumentation and digital image analysis techniques to support the expeditious detection of fetal cells for prenatal diagnosis from maternal blood. The ultimate goal of current research in the field is to make low-cost, low-risk prenatal genetic screening widely available. Current emphasis is on simple, fast, practical methods for enrichment and genetic testing of fetal cells. This project combines a novel sample preparation approach with speedy automated cell detection for interactive aneuploidy evaluation by FISH. Our approach incorporates fetal cell isolation by routine density gradient centrifugation, followed by uncomplicated May-Giemsa specimen staining. The automated screening process uses transmitted light (not fluorescence) for cell-finding, making it less expensive and faster (due to short integration times). Genetic testing can then be either automatic FISH dot-counting or visual analysis. The Phase I project will evaluate the feasibility of this approach to non-invasive prenatal testing. In Phase II we will build a prototype and test it in a clinical environment. Phase III will focus on commercialization of the system, making fetal screening available to virtually the whole population. This innovative technological approach has the potential to revolutionize the future of prenatal diagnosis. PROPOSED COMMERCIAL APPLICATION As soon as the techniques are developed and qualified for routine application, they will be incorporated into PSI'S PowerGene product line of cytogenetics automation equipment, both in new systems sold and as an upgrade to existing systems already in use in cytogenetics labs. Thus commercialization of the technology developed under this project will occur quickly.