Blinded, Independent Study Shows Proprietary Technology Accurately Detected Trisomy 21, Trisomy 13, Trisomy 18, Monosomy X and Triploidy
The Fetal Medicine Foundation and Natera today announced the publication of data in Prenatal Diagnosis demonstrating the high accuracy of Natera’s non-invasive prenatal testing technology, which detected all cases of trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), monosomy X (Turner’s syndrome) and triploidy using fetal cell-free DNA found in maternal blood. Natera’s non-invasive prenatal test based on this technology, marketed under the brand name Panorama™, was launched on March 1, 2013.
This independent and blinded study was conducted and supported by a grant from the Fetal Medicine Foundation and involved 242 samples. The results demonstrated Panorama’s specificity and sensitivity of 100 percent across all chromosomal abnormalities analyzed, with no false positive or false negative results. In addition to the specific chromosomal abnormalities correctly identified, Panorama also accurately ruled out sex chromosome trisomies and correctly assigned fetal sex in all reported cases. Results were provided for 229 of the cases, with thirty-two cases correctly identified as aneuploidy.
“This blinded study provides further evidence that cell-free DNA testing in maternal blood is the most accurate method of screening for trisomies,” said Professor Kypros Nicolaides, M.D., chairman of the Fetal Medicine Foundation and director of the Harris Birthright Research Centre for Fetal Medicine at King's College Hospital in London. “In addition the study demonstrates the power of Natera’s next-generation technology to detect triploidy.”
Matthew Rabinowitz, Ph.D., chief executive officer of Natera, added, “Due to the powerful method of testing underlying Panorama, it has unique detection capabilities among non-invasive prenatal tests available today. In addition to the high accuracy demonstrated by this study and others, this approach enables the detection of triploidies, which affect one in 100 pregnancies at conception and cannot be identified using other cell-free fetal DNA technologies.”
Maternal blood samples were obtained at 11-13 weeks of pregnancy. Details of the study are available online at http://onlinelibrary.wiley.com/doi/10.1002/pd.4103/abstract and will publish in the June print issue of Prenatal Diagnosis.
About the Fetal Medicine Foundation
The Fetal Medicine Foundation is a UK registered charity, which supports research and training in fetal diagnosis and therapy. The Foundation has played a central role in the development and worldwide adoption of the current method of screening for trisomies, which is based on the measurements of fetal nuchal translucency and maternal serum free ß-hCG and PAPP-A.
Natera is a genetic testing company that has developed a proprietary bioinformatics-based technology to deliver accurate and comprehensive high-throughput testing for reproductive indications from tiny quantities of DNA. Natera operates a CLIA-certified laboratory in San Carlos, Calif., providing a host of preconception and prenatal genetic testing services. Test offerings include pre-implantation genetic diagnosis to identify chromosomal anomalies or inherited genetic conditions in embryos generated during an IVF cycle; products-of-conception testing following miscarriage to rapidly and extensively analyze fetal chromosomes in order to understand the cause of the pregnancy loss; non-invasive prenatal testing to determine paternity; carrier screening tests to detect whether parents carry genetic variations that may result in disease in the child; and Panorama, a safe, simple test for pregnant women that identifies the most common chromosomal anomalies in a fetus as early as nine weeks. Natera's clinical trial for non-invasive screening of fetal chromosomal anomalies is funded by the NIH and is being conducted by the leaders in maternal-fetal medicine in the United States. For more information, visit www.natera.com.
Ian Stone, 619-308-6540