This Small Business Innovation Research Phase I project addresses the unmet medical need to non-invasively obtain sufficient numbers of fetal cells for prenatal diagnosis of chromosomal abnormalities and genetic diseases. Currently, the invasive procedures of amniocentesis or chorionic villus sampling are used to physically remove fetal cells from amniotic fluid or placenta for prenatal genetic analysis. These invasive procedures carry significant risk to both mother and fetus. The overall goal of the proposed project is to develop technology to isolate and expand fetal trophoblast cells from maternal peripheral blood for non-invasive prenatal diagnostics. Fetal trophoblast cells are present in insufficient numbers in maternal peripheral blood for direct use in existing commercial prenatal diagnostic tests. The technical challenge that will be addressed in this proposal is to exploit the natural characteristics of fetal trophoblast cells to selectively expand them in culture by modifying culture conditions to obtain a sufficiently high concentration of fetal trophoblasts for prenatal diagnostic testing. The proposed Phase I project will deliver groundbreaking advances in isolation and expansion of fetal trophoblast cells necessary for innovative development of a device and technology for microfluidic isolation and expansion of fetal trophoblasts from maternal peripheral blood for non-invasive prenatal diagnostics. The broader impact/commercial potential of this project is that our innovative technology will replace the current invasive methods of fetal cell collection for prenatal diagnosis of genetic disease. With our technology, fetal cell collection can be performed non-invasively in the first trimester, thus permitting earlier diagnosis of genetic disease which, in turn, will provide for better care of the mother and unborn infant. Our technology provides the simplest, most direct, and most cost-effective approach available for obtaining fetal cells. Approximately 300,000 women have an invasive amniocentesis or chorionic villus sampling procedure performed to collect fetal cells for screening for chromosomal abnormalities. After initial introduction of our technology, later market penetration will permit this technology to replace current pre-screening blood tests, a current available market of approximately 2.5 million patients per year in the US alone. Potential market size for our technology is approximately $1.4 billion per year. Several clinical diagnostics companies have expressed interest in purchasing a microfluidic separation device that can capture fetal cells of sufficient number and purity from maternal peripheral blood. Clinical diagnostics labs would use the captured fetal cells in their downstream genetic analyses
