Roche (SIX: RO, ROG; OTCQX: RHHBY). Results from the largest clinical trial to date, comparing non-invasive prenatal testing (NIPT) using the Harmony™ Prenatal Test with conventional first trimester combined screening (FTS) in a general pregnancy population 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 Harmony™ 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."