Thursday, October 17, 2013

Natera Expands PanoramaTM to Include Detection of Triploidy, Following Publication of Validation Data in Fetal Diagnosis and Therapy

Natera Improves Turnaround Time to 7-10 Calendar Days

SAN CARLOS, Calif - Monday, October 14th 2013 [ME NewsWire]

(BUSINESS WIRE) Natera, a leading innovator in prenatal genetic testing, today announced that, following publication of validation data in Fetal Diagnosis and Therapy, its non-invasive prenatal test Panorama™ is being expanded to offer detection of triploidy. Natera launched Panorama in March 2013 for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and monosomy X (Turner syndrome). Additionally, Natera is now offering improved turnaround time of 7 to 10 calendar days.

The data, from a study by Professor Kypros Nicolaides of the Fetal Medicine Foundation, showed that Panorama differentiated between triploid and euploid cases in 56 blinded samples with 100 percent accuracy. Triploidy occurs when a fetus has three copies of every chromosome, resulting in 69 total chromosomes instead of 46. The condition affects an estimated 1 of 1000 pregnancies at 10 weeks gestation, which is more common than trisomy 13 and trisomy 18. Triploidy is always terminal, with pregnancies ending either in miscarriage, stillbirth or death shortly after birth. Pregnancies that end after the first trimester also present emotional trauma and significant physical complications for the mother, including increased risk of pre-eclampsia, hemorrhaging, molar placentas and choriocarcinoma, a form of cancer that occurs in the uterus. Early detection is important as it allows for necessary medical attention and clinical care for the mother.

“This study demonstrates Natera’s unique ability to distinguish between triploid and euploid pregnancies,” said Professor Nicolaides, author of the paper in Fetal Diagnosis and Therapy. “This will be an important feature for many physicians and patients who have encountered triploidy in the past, as it occurs in approximately 1 out of every 1,000 pregnancies at 10 weeks gestation when most cell free DNA tests are now performed, and it can lead to serious maternal complications.”

Added Matthew Rabinowitz, Ph.D., chief executive officer of Natera, “It has been our goal from the beginning to bring doctors and patients the most relevant clinical information for improved management of the pregnancy, and triploidy is an excellent example of these efforts. Other non-invasive prenatal tests based on cell-free DNA analysis, which rely on a counting method and comparison to a set of reference chromosomes, are unable to detect this condition. We are pleased to make triploidy detection available through our world-class partners while we continue to explore further applications for the NATUS technology.”

First trimester screening for trisomy 21, trisomy 18, trisomy 13 by fetal nuchal translucency and serum screening detects only about 85% of triploidy cases. Utilizing an advanced sequencing platform and NATUS [Next-generation Aneuploidy Testing Using SNPs] algorithm, Panorama provides the most effective method of screening for fetal aneuploidies and is uniquely capable of detecting triploidy.

Across multiple clinical trials, Panorama has been validated globally for detection of trisomy 21, trisomy 18, trisomy 13, monosomy X, and now triploidy, with a sensitivity of greater than 99 percent for trisomy 21, trisomy 18, trisomy 13, and triploidy, 92 percent for monosomy X, and a less than 0.1% false positive rate for all syndromes tested. Panorama’s clinical validation data has been reported in multiple peer-reviewed publications, including the May 2013 article in Prenatal Diagnosis, also authored by Professor Nicolaides, which was the first demonstration of Panorama’s ability to detect triploidy.

Panorama uses a simple blood draw from the mother, examines cell-free DNA originating from both mother and fetus found in maternal blood and can be performed within the first trimester of pregnancy, as early as nine weeks, without any risk to the fetus. Panorama’s technology analyzes, in a single reaction, 19,488 single nucleotide polymorphisms (SNPs), which are the most informative portions of an individual’s DNA.

About Natera

Natera is a leading genetic testing company that has developed a proprietary bioinformatics-based technology (NATUS) 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 PreNATUS 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


Russo Partners

Ian Stone, 619-308-6541

Natera, Inc.

Solomon Moshkevich, 650-249-9090


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