Sequenom One Step Closer to Noninvasive Test for Down Syndrome
Monday, February 25, 2008 23:19
As I posted earlier this month, there are a couple of US companies working on providing noninvasive prenatal diagnosis for genetic conditions like Down syndrome (Trisomy 21). A recent press release from one of those companies, Sequenom, shows that they are one step closer to bringing their test to market. Data from a clinical trial using 100 blood specimens from mothers of different ethnic groups shows that Sequenom’s test for Trisomy 21, which uses their SEQureDx™ Technology, covers nearly 85% of ethnic groups with greater than 95% sensitivity and close to 99% specificity.
Sequenom’s Trisomy 21 test is being developed in order to assess the risk of Down syndrome using maternal blood samples in the first of early second trimester. It is designed as a noninvasive alternative to tests like chorionic villus sampling (CVS) and amniocentesis, two procedures which involve removing samples from within the uterus, and carry the risk of pregnancy loss.
Sequenom plans to make their test for Down syndrome commercially available in early 2009. In the meantime, they are continuing to improve their Trisomy 21 test as well as develop tests for other chromosomal disorders.
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Kyle S says:
February 26th, 2008 at 10:06 am
Very interesting. I have been following Sequenom’s progress but was not familiar with Ikonisys.
There is another company that appears to be working in this space – Ravgen (http://www.ravgen.com/news.aspx).
However, I am not a medical professional (far from it!) What is your view of the Sequenom technology – is this specificity, coverage and sensitivity compelling when compared to current methods?
Kristie says:
February 26th, 2008 at 10:48 am
Good question. As compared to other noninvasive tests, it’s much better. For example here’s a quote on ultrasound examination from Dr. Lorraine Dugoff:
“An analysis of seven studies totaling nearly 11,000 high-risk patients showed that second-trimester ultrasound markers averaged 75% sensitivity and 83% specificity for Down syndrome.”
Maternal serum quad screen has a 77%-80% detection rate with a 5%-7% rate of false positives.
Thanks for the link to Ravgen. Looks like they’re in the race as well, although I hadn’t heard of them before.
Sequenom Noninvasive Prenatal Down Syndrome Test Proven Accurate | Kristie McNealy, MD says:
September 24th, 2008 at 3:45 pm
[...] Down syndrome that was being developed by a company called Sequenom. You can read more about it here and here. This week, Sequenom announced additional study results, showing that their circulating [...]