Data Published in Prenatal Diagnosis Demonstrate Natera's Non-Invasive Prenatal Testing Technology Enables Accurate Detection of Chromosomal Abnormalities Using Maternal Blood
Natera today announced that data from a clinical study published in Prenatal Diagnosis demonstrate the ability of the company's non-invasive prenatal screening test to detect chromosomal abnormalities from fetal cell-free DNA found in maternal blood with high accuracy.
The study was aimed at detecting aneuploidies of chromosomes 21, 18 and 13, as well as the X and Y chromosomes. Conducted with 166 maternal blood samples, the study showed that Natera's Parental SupportTM technology correctly identified the number of chromosomes at all five chromosomes examined, in samples that passed the quality threshold, for a total of 725/725 correct calls. The study specifically tested for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), XXY and monosomy X (Turner's syndrome), allowing the detection of significantly more abnormalities than currently available non-invasive fetal aneuploidy tests. The average calculated accuracy of the test for these samples was 99.92 percent.
“These data demonstrate the unique power of Natera's technology in identifying a wide range of genetic abnormalities,” said Matthew Rabinowitz, Ph.D., chief executive officer of Natera. “Our screening test produced highly accurate results across all five chromosomes that are critical to the screening requirements in obstetrics. As a group, sex chromosome abnormalities are more prevalent at the time of birth than autosomal trisomies, such as Down syndrome, and detecting these anomalies continues to remain an unmet medical need despite advances in fetal cell-free DNA testing. Since conducting this study we have made additional improvements to our methodology and achieved levels of accuracy that are unparalleled in the industry while substantially reducing the redraw rate.”
Improvements to the technology include increasing the number of parallel analyses conducted, through use of a 19,500-plex assay, and applying NATUS [Next-generation Aneuploidy Testing Using SNPs], an advanced version of Natera's algorithm. On October 25, at the 2012 Annual Education Conference for the National Society of Genetic Counselors, Natera presented new data from a study of 263 maternal blood samples. The NATUS algorithm was able to correctly identify fetal aneuploidies in all samples that passed the quality threshold, thus demonstrating 100 percent sensitivity and 100 specificity with a redraw rate of approximately 6 percent.
Natera's non-invasive prenatal test is currently being evaluated in multiple clinical trials for detection of multiple disorders, including trisomy 13, trisomy 18, trisomy 21, XXY, XYY, XXX and monosomy X. The test, planned for launch later this year, uses a simple blood draw from the mother and can be performed within the first trimester of pregnancy without any risk to the fetus. Natera's PreNATUS clinical trial is the first clinical trial of a non-invasive prenatal test that is funded in part by the National Institutes of Health.
Natera is a genetic testing company that has developed a proprietary bioinformatics-based technology (Parental SupportTM) to deliver accurate and comprehensive high-throughput testing for reproductive indications from tiny quantities of DNA – as small as that from a single cell. Natera operates a CLIA-certified laboratory in San Carlos, Calif., providing a host of preconception and prenatal genetic testing services. Test offerings include preimplantation genetic diagnosis to identify chromosomal anomalies or inherited genetic conditions in embryos generated during an IVF cycle in order to select those with the highest probability of becoming healthy children; products-of-conception testing following miscarriage to rapidly and extensively analyze fetal chromosomes in order to understand the cause of the pregnancy loss; and non-invasive prenatal testing to determine paternity or detect whether parents carry genetic variations that may result in disease in the child by analyzing fragments of fetal cell-free DNA in a pregnant mother's blood drawn as early as the first trimester. Non-invasive testing for paternity is currently available worldwide. Natera's PreNATUS clinical trial for non-invasive detection 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.