Tag: MassARRAY
New Down Syndrom Screening MethodTo Be Tested
by admin on Oct.28, 2008, under general research
DNA
According to Market Watch, San Diego-based company Sequenom has launched an independent multi-center observational study to test the performance of one of its products to screen for Down Syndrom.
According to the company’s press release:
The 16-month RNA Study will evaluate the SEQureDx T21 technology performance by obtaining blood samples from up to 10,000 pregnant women in high prevalence pregnancies late in the first trimester to be confirmed by chorionic villus sampling (CVS) or early second trimester to be confirmed by amniocentesis. The study will include 30 worldwide clinical sites and three independent laboratory sites. The study…is aimed at producing sufficient data for submission to a peer-reviewed journal for publication.
Current screening technology for Down syndrome includes serum marker analysis, such as the quad screen and first trimester combined screening that combines serum marker testing with nuchal translucency. These approaches have detection or sensitivity rates of 80% and 85% to 87%, respectively, which means that between 13% and 20% of all Down syndrome-affected pregnancies will not be identified as needing further evaluation. In addition, these approaches also have false positive rates of between 5% to 10%, resulting in hundreds of unnecessary, highly invasive CVS or amniocentesis procedures. These invasive procedures, which are used to determine whether the fetus has Down syndrome, carry a risk of miscarriage in the range of one-in-100 to one-in-300.
