Natera, San Carlos, Calif, reports that its noninvasive prenatal screening test, Panorama™, will be introduced on March 1 for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), and select sex chromosome abnormalities, such as monosomy X (Turner’s syndrome).
In clinical validation studies, Panorama demonstrated a sensitivity of greater than 99% when detecting common chromosomal abnormalities such as trisomy 21, trisomy 18, and trisomy 13; and 92% when detecting monosomy X.The test also demonstrated a specificity of 100% with no false positives for all the syndromes tested, the company reports. The test uses fetal cell-free DNA found in maternal blood and works as early as 9 weeks gestation. Its clinical validation data was presented at the annual Society of Maternal Fetal Medicine Meeting on February 15.
Matthew Rabinowitz, PhD, CEO, Natera, says the test will be the first to screen for sex chromosome abnormalities in every sample. “We also recognize that there is more potential for this technology in new areas, and we look forward to broadly extending the full benefits of Panorama’s technology,” he says.
“Cell-free DNA testing has already significantly advanced the level of care for expectant mothers,” says professor Kypros Nicolaides, MD, director of the Fetal Medicine Foundation and the Harris Birthright Research Centre for Fetal Medicine at King’s College Hospital, London. “In our first study completed with Natera, I was pleased that the Panorama test was able to detect chromosomal abnormalities beyond trisomies 21, 18, and 13.”
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, according to the company. It uses the NATUS [Next-generation Aneuploidy Testing Using SNPs] algorithm, an advanced version of Natera’s proprietary informatics. Panorama has been validated globally and is currently being evaluated in several other clinical trials for the detection of genetic disorders, including trisomy 21, trisomy 18, trisomy 13, monosomy X, XXY, XYY, XXX, and triploidy. The test uses a simple blood draw from the mother and can be performed within the first trimester of pregnancy, as early as 9 weeks, without any risk to the fetus.