Sequenom, Inc, announced a collaboration with Obstetrix Medical Group, to provide the Sequenom Center for Molecular Medicine (SCMM) with samples for a study to further evaluate its novel, noninvasive prenatal test to assess Down syndrome (Trisomy 21) based on its circulating cell-free fetal (ccff) nucleic acid SEQureDx technology. Obstetrix is a national physician group practice of maternal-fetal medicine specialists that is affiliated with Pediatrix Medical Group.
This prospective multi-center feasibility study, "Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker," is designed as a Laboratory Developed Test (LDT) validation study and will evaluate up to 5,000 samples. To facilitate the LDT validation of the SEQureDx Trisomy 21 Test, Sequenom will be collaborating with physicians practicing as part of Obstetrix as well as other maternal-fetal medicine practices.
According to the study protocol, Obstetrix will collect clinical maternal plasma samples prior to performing an amniocentesis or chorionic villus sampling (CVS) procedure. SCMM will then compare results for the detection of Down syndrome using its prototype test of maternal blood samples to the related amniocentesis or CVS results.
"We are delighted to be working with Obstetrix, a highly respected leader in the care of women during high-risk pregnancies," said Harry Stylli, Sequenom's president and chief executive officer. "This validation study is an important next step in our commercialization strategy to bring our noninvasive Trisomy 21 Down syndrome maternal blood LDT to market."
Thomas J Garite, MD of Obstetrix Medical Group, who will oversee the study, stated, "The discovery of fetal DNA and RNA in the plasma of pregnant women has led to promising approaches to noninvasive prenatal testing for the identification of pregnancies with a chromosomal abnormality such as Down syndrome. This test could produce results that are more accurate than current early-stage serum screening methods, thus reducing the need for invasive tests, such as amniocentesis or CVS, which pose a certain level of risk for mother and fetus."
Dr Stylli added, "We are committed to becoming a leader in noninvasive prenatal diagnostics. As such, Sequenom has taken a three-pronged approach to the development and clinical evaluation of the Trisomy 21 technology. First, we completed a rigorous R&D study over the last year, the final data from which will be announced later today. Second, we initiated this LDT validation study to obtain extensive clinical data in support of faster adoption of an LDT by our CLIA-certified laboratory, SCMM. Lastly, Sequenom is sponsoring the RNA Noninvasive Aneuploidies (RNA) study, a landmark, multi-center, prospective study involving up to 10,000 samples from first and second trimester pregnancies using the SEQureDx technology, managed and analyzed by an independent third-party."