Natera, a leading innovator in prenatal genetic testing, announced today that data demonstrating the accuracy of its non-invasive prenatal screening test, Panorama™, in detection of multiple sex chromosome abnormalities were published in Prenatal Diagnosis.
Data were obtained from an independent study of Panorama for detection of 45,X (monosomy X), 47,XXY and 47,XYY in 201 samples, 16 of which were afflicted with sex chromosome abnormalities. Panorama analyzed five chromosomes in each sample, with 934 correct calls out of 935 chromosomes, at as early as 9.4 weeks of gestation. Monosomy X was detected with a sensitivity of 91.7 percent, and 47,XXY and 47,XYY were detected correctly. The average calculated accuracy was 99.78 percent. Panorama is currently available for detection of trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and monosomy X (Turner’s syndrome) using fetal cell-free DNA found in maternal blood.
“Boys with XXY chromosomal abnormalities can be effectively treated with hormone therapies early in life, but unfortunately they often go overlooked until infertility or learning disabilities present late in life,” said Dr. Carole Samango-Sprouse of George Washington University School of Medicine and Health Sciences and lead author. “Making this information available early in pregnancy allows parents time to understand, anticipate the child’s needs and institute early and appropriate treatment. Early detection leads to improved outcome, especially in children with these disorders. This information is critical for parents, and we are excited to see the high detection rates demonstrated by Panorama.”
Added Matthew Rabinowitz, Ph.D., chief executive officer of Natera, “These published results continue to demonstrate Panorama’s unparalleled accuracy, even as we explore new areas of detection for chromosomal abnormalities. Natera continues to push the boundaries of non-invasive prenatal testing to bring patients the most reliable data possible early in pregnancy. Supporting this aim, we are investigating new applications for our NIPT technology in multiple clinical trials.”
Panorama uses a simple blood draw from the mother, examines the mixture of maternal and fetal cell-free DNA found in maternal blood and can be performed within the first trimester of pregnancy, as early as nine weeks of gestation, without any risk to the fetus. Panorama’s technology analyzes, in a single reaction, 19,500 single nucleotide polymorphisms (SNPs), which are the most informative portions of an individual’s DNA. It utilizes the Next-generation Aneuploidy Testing Using SNPs algorithm, an advanced version of Natera’s proprietary informatics.
Across multiple global clinical trials, Panorama has been validated for trisomy 21, trisomy 18, trisomy 13 and monosomy X detection with a sensitivity of greater than 99% for trisomy 21, trisomy 18 and trisomy 13, and 92% for monosomy X. Panorama’s clinical validation data were presented at the annual Society of Maternal Fetal Medicine Meeting on Feb. 15, 2013. The most recent independently-led blinded study was published in May 2013 in Prenatal Diagnosis from author Professor Nicolaides, M.D., and The Fetal Medicine Foundation. Panorama is currently being evaluated in several clinical trials for the detection of other genetic disorders.
Natera is a leading 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
Gautam Kollu, 650-249-9090