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Noninvasive Prenatal Down Syndrome Testing

Ravgen was founded in 2000 with the goal of developing a fetal DNA based sequencing method to allow for safe, noninvasive, and accurate prenatal diagnosis of genetic disorders, such as Down syndrome, early in pregnancy. The key to developing this technology lies in Ravgen’s ability to first, increase the percentage of fetal DNA present in blood from the pregnant mother and then, detect the presence of all or part of a third copy of chromosome 21 as in Down syndrome. Ravgen published its noninvasive prenatal testing technology in a two-step process. In 2004, the first paper in the Journal of the American Medical Association (JAMA) described the methods to increase the percentage of fetal DNA present in a tube of blood from the mother by adding a fixative to prevent maternal cell lysis. In 2007, a second publication in The Lancet which presented a study showcasing its ability to use this technology to detect Downs syndrome from blood using Ravgen’s non-hybridization- based DNA sequencing method. These publications received worldwide press changing the paradigm of prenatal diagnostics by introducing a noninvasive alternative to accurate prenatal testing. Ravgen has spent over a decade developing noninvasive prenatal Downs testing and it continues to be under research and development at this time.