SAN JOSE, California, April 2 /PRNewswire/ -- Roche (SIX: RO, ROG; OTCQX: RHHBY). Results from the largest clinical trial to date, comparing non-invasive prenatal testing (NIPT) using the HarmonyTM Prenatal Test with conventional first trimester combined screening (FTS) in a general pregnancy population1, have been published online in The New England Journal of Medicine (NEJM). The NEXT (Non-Invasive Examination of Trisomy) Study demonstrates statistically significant superiority of the HarmonyTM Prenatal Test over FTS for accurately assessing the risk of Trisomy 21, which causes Down syndrome. The study, comprised of more than 18,500 expectant mothers, was sponsored by Ariosa Diagnostics, Inc. (Ariosa). Ariosa was acquired by Roche in January 2015.
"This landmark study supports the use of NIPT as a first line screening option for any pregnant woman, regardless of whether the patient is low, average, or high risk. No study to date has been large enough to assess the performance of NIPT, compared to conventional screening, in the general pregnancy population," said Ronald Wapner, MD, co-Principal Investigator of the study and professor of obstetrics and gynecology at Columbia University Medical Center. "But the NEXT Study has shown high accuracy with NIPT regardless of maternal age or risk status."
The NEXT Study enrolled pregnant women during the first trimester with an average gestational age of 12.5 weeks. The study was statistically designed for both sensitivity and specificity, with all patients receiving both NIPT and FTS in a blinded fashion. Each subject was followed through pregnancy and newborn outcomes were obtained. The Harmony test's false positive rate at 0.06% was more than 90 times lower than the FTS false positive rate of 5.4%. The Harmony test correctly identified 100% of Trisomy 21 cases compared to 79% with FTS. In a sub-analysis of over 11,000 low risk only pregnancies (maternal age < 35 years), the Harmony test identified all Trisomy 21 cases with a false positive rate of 0.05%, demonstrating equivalent performance to that of the Harmony test in the total study population.
"By identifying cases of Trisomy 21 much more accurately, the Harmony test significantly lowers the risk of false positive results, which in turn may reduce the need for invasive testing," said Thomas Musci, MD, Chief Medical Officer at Ariosa. "The results of this study are a step toward improving prenatal care and reaffirm our mission to offer highly accurate, non-invasive prenatal testing to all women who choose screening, regardless of age or risk."
1Women in the general pregnancy population were included regardless of age or other risk factors.
The Harmony Prenatal Test is a blood test for pregnant women that can be used as early as 10 weeks into pregnancy. By evaluating cell-free DNA found in maternal blood including accurate measurement of the fetal fraction of DNA, the test assesses the risk of Trisomy 21 (Down syndrome) in the fetus. It has been validated to CLIA requirements by a robust clinical data set and supported by clinical studies in more than 22,000 women of all ages and risk categories*. It is available in more than 90 countries and has been used to guide clinical care in over 400,000 pregnancies worldwide.
* Data have not been submitted to or evaluated by regulatory agencies and the test is not for sale as an In Vitro Diagnostic (IVD) in the US or the EU.
Ariosa Diagnostics, Inc. is a leading global molecular diagnostics company committed to improving overall patient care by developing and delivering innovative, affordable, and widely-accessible testing services through their CLIA laboratory. Tests are fully validated to CLIA requirements by rigorous and comprehensive methodologies to ensure health care practitioners and patients can be confident in the test's performance. Ariosa has developed leading-edge technologies to perform a directed analysis of cell-free DNA in blood. Ariosa is located in San Jose, California and was acquired by Roche in 2015.
For more information, visit www.ariosadx.com.
Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world's largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and neuroscience. Roche is also the world leader in in vitro diagnostics and tissue-based cancer diagnostics, and a frontrunner in diabetes management. Roche's personalized healthcare strategy aims at providing medicines and diagnostics that enable tangible improvements in the health, quality of life and survival of patients. Founded in 1896, Roche has been making important contributions to global health for more than a century. Twenty-four medicines developed by Roche are included in the World Health Organization Model Lists of Essential Medicines, among them life-saving antibiotics, antimalarials and chemotherapy.
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Roche Sequencing Media Relations, Jacquie Bucher