Prenatální test Harmony, založený na principu Nenvazivního Prenatílního Testování (NIPT), detekci volné nebuněčné DNA z mateřské krve prokázal vhodnost k použití v nízkorizkové populaci a  je v současnosti i dále široce testován v řadě studií prováděných v západní Evropě a USA. Informace o těchto probíhajících studií najdete v následujícím textu. Více informací o indikacích a kontaktech k provedení prenatálního testu Harmony najdete zde

Ongoing Clinical Studies of Harmony

We are pleased to inform you of a few of our ongoing, international clinical studies.  It is through studies like these, that large amounts of clinical data will become available to determine the performance and utility of NIPT in all populations and healthcare systems.
Dr. Kypros Nicolaides is leading a study targeted to enroll 25,000 pregnant women to evaluate the utility and performance of the Harmony™ Prenatal Test in the general UK screening population.  This National Health Service study began enrolling patients in October 2013. As part of the study, all women will undergo a first trimester combined serum and ultrasound test. Based on those results, a subset (FTS risk between 1 in 100 to 1 in 2,500) will be offered the Harmony test.  By incorporating the Harmony™ Prenatal Test into the general screening algorithm, it is expected that the number of Down Syndrome cases identified will increase, and that the number of false positive screen results will decrease, thereby decreasing the number of invasive tests posing risk to healthy fetuses.  It is estimated that approximately 20% of the screened population would be offered cell-free DNA testing in this protocol. populations and healthcare systems.
Dr. Francois Rousseau and Dr. Sylvie Langlois are leading the Canadian PEGASUS (PErsonalized Genomics for prenatal Aneuploidy Screening USing maternal blood) study.  This study aims to independently compare the performance of different screening approaches for chromosomal conditions. The study also will evaluate the cost-effectiveness and ethical and social aspects of the technology, and will seek to identify the best implementation tools for users in the healthcare system. The researchers will recruit 5,600 pregnant women (3,600 at high risk of trisomy and 2,000 at low-average risk).  Samples from these women will be tested with NIPT and traditional serum and ultrasound testing in parallel without knowledge of true status of pregnancy outcome. Results from traditional screening and from NIPT will be compared to determine the best means for screening for chromosomal trisomies to implement in Canada.  Ariosa is quite pleased to be able to collaborate in this important study and Harmony will be the NIPT used for reporting results to patients in the clinical implementation arm of the study.

Amassing performance data for NIPT in the General Pregnancy Population

Evidence validating the use of NIPT in the general pregnancy population is increasing. In a 2012 study by Nicolaides, et al  (Am J of Obstet Gynecol 2012;207:374.e1-6) 2049 pregnant women (median maternal age 31.8 years) had the Harmony™ Prenatal Test at 11-13 weeks of gestation.  All 10 cases of trisomy were detected (8/8 trisomy 21 and 2/2 trisomy 18) with a combined False Positive Rate (FPR) of 0.1%.  

A recent study by Bianchi, et al (NEJM. 2014;370:799-808) compared the FPR (for trisomy 21 and trisomy 18) of standard screening to NIPT in the general pregnancy population. NIPT was performed on 2042 pregnant women (mean maternal age 29.6 years) undergoing standard screening. Five cases of trisomy 21, two cases of trisomy 18 and one case of trisomy 13 were detected by NIPT testing.  The FPR with NIPT testing was significantly lower for trisomy 21 (0.3% vs. 3.6%) and trisomy 18 (0.2% vs. 0.6%) as compared to standard biochemical screening (with or without nuchal translucency).
Both of these studies have shown a marked improvement in the FPR for NIPT in the general pregnancy population when compared to traditional screening.  However, because the number of patients in these studies was small, neither study was able to answer the previously unanswered question: Is the detection rate for Down Syndrome better using the Harmony Prenatal test as compared to traditional screening in the general pregnancy population? 
The Non-invasive EXamination of Trisomy (NEXT) study has enrolled nearly 19,000 women from the general pregnancy population to evaluate the performance of the Harmony™ Prenatal Test as compared to first trimester screening with nuchal translucency providing the needed answer to this question.  Co-principal investigators of the study are Ron Wapner, MD and Mary Norton, MD. Preliminary data from this study were presented at the Society for Gynecologic Investigation and the American College of Medical Genetics annual meetings in March. We eagerly anticipate the publication of this work in the coming months and will share further details at that time. 

zdroj Ariosa