Klinische Studie unterstreicht Nachweis fetaler Trisomie 13 mit dem Harmony™ Prenatal Test

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Study shows majority of cases detected with less than 0.1 percent false positive rate

San Jose, Calif., Sept. 24, 2012 –A new study published in the journal Ultrasound in Obstetrics and Gynecology, is the largest study to date of non-invasive prenatal testing (NIPT) for detecting fetal trisomy 13 (T13) and provides further evidence of the Harmony Prenatal Test’s utility for detection of genetic conditions. T13 causes Patau syndrome and affects approximately one in 16,000 newborns. T13 is also associated with a high rate of spontaneous miscarriage.

The study, available at http://onlinelibrary.wiley.com/doi/10.1002/uog.12299/abstract, was co-led by Dr. Kypros Nicolaides and his research staff of the Harris Birthright Research Centre and Ariosa Diagnostics. The study was conducted in two phases. The first phase was used to optimize the T13 algorithm – developed by Ariosa Diagnostics – which was then applied to an independent second group of patients. In the blinded analysis of the second group, of the ten fetal T13 cases, eight were given T13 risk scores greater than 99 percent with the Harmony test. Of the 1,939 non-T13 cases, all but one case was correctly classified as low-risk thereby yielding a false positive rate of less than 0.1 percent. All non-T13 cases were from an average-risk population.

“Given the rarity of trisomy 13, it is critical to have a test with as low of a false positive rate as possible,” said Dr. Thomas Musci, vice president of clinical development and medical affairs at Ariosa Diagnostics. “Having studied the Harmony Prenatal Test in more than 6,000 women now, including over 2,000 average-risk women, NIPT represents a new option for pregnant women interested in prenatal testing for common trisomies.”

The Harmony test represents the latest advance in prenatal testing. The test analyzes cell-free DNA circulating in maternal blood, which allows a high level of accuracy for detecting fetal trisomies. The test involves a single standard blood draw performed as early as 10 weeks’ gestation.