Aria Diagnostics, a molecular diagnostics company, today announced the publication of an independent blinded study that examines the accuracy of its non-invasive prenatal test for the detection of Trisomy 21 (associated with Down syndrome) and Trisomy 18 (associated with Edwards syndrome). The study showed that the test, coupled with a proprietary algorithm to assess individualized risk for these trisomies, distinguished 100 percent of T21 and 98 percent of T18 cases, while correctly identifying 100 percent of the non-trisomic samples. The data appear online in the American Journal of Obstetrics & Gynecology at http://www.sciencedirect.com/science/article/pii/S0002937812000609?v=s5.
"This constitutes a major breakthrough in the non-invasive detection of the two most common trisomies," said Professor Kypros Nicolaides, MD, of Harris Birthright Research Centre for Fetal Medicine at King's College Hospital in the United Kingdom and lead author of the paper. "I am now certain that this test will become a universal screening tool for Trisomies 21 and 18, provided the cost becomes comparable to that of current methods of sonographic and biochemical testing."
The study, titled, "Chromosome-Selective Sequencing of Maternal Plasma Cell-Free DNA for First-Trimester Detection of Trisomy 21 and Trisomy 18" was independently conducted and supported by a grant from the Fetal Medicine Foundation. The study assessed the ability of Aria's highly multiplexed assay, known as Digital Analysis of Selected Regions (DANSR™), to detect T21 and T18 by using chromosome-selective sequencing and to calculate risk scores with the proprietary Fetal-fraction Optimized Risk of Trisomy Evaluation (FORTE™) algorithm in 400 pregnant women at 11 to 13 weeks gestation. In addition to demonstrating the accuracy of Aria's technology, researchers reported that chromosome-selective sequencing requires 10 times less DNA sequencing than massively parallel shotgun sequencing (MPSS) approaches.
"This study provides firm support that Aria's technology has the potential to transform prenatal trisomy testing. Current prenatal testing involves a myriad of options that are confusing and either lack accuracy or pose harm to the pregnant woman and fetus," said Ken Song, chief executive officer of Aria Diagnostics. "We are developing a test that can greatly simplify the standard of care for pregnant women and give providers and patients confidence as a result of our highly accurate results."