SEMI-AUTOMATED PRENATAL SCREENING USING MATERNAL BLOOD

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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.