Sequenom Announces Key Milestone in Development of Noninvasive Prenatal Down Syndrome Test
News Feb 21, 2008
Sequenom, Inc. has announced a significant step in the development of a noninvasive test for Trisomy 21, Down syndrome, that will incorporate multiple RNA fetal markers, including the PLAC4 gene as previously published by Dr. Dennis Lo, Chinese Hong Kong University.
In preliminary studies, more than 100 clinical plasma specimens of various ethnicities were tested with partners using the Company's MassARRAY® platform and its SEQureDx™ Technology.
Data from those studies indicate that the development-stage Trisomy 21 test is approaching 85% (+/- 5%) ethnic coverage, more than 95% sensitivity and close to 99% specificity. The Trisomy 21 test is being developed to directly assess risk of Down syndrome using a maternal blood sample as early as the first trimester through the early second trimester, prior to invasive procedures such as amniocentesis or chorionic villus sampling that carry unnecessary risk to mother and fetus. The Trisomy 21 test is expected to be commercially available as a laboratory developed test (LDT) through licensing partners in the first half 2009.
"These early results are encouraging and provide the basis for a new technology that could complement or otherwise change the current surrogate serum screening and amnio testing markets," said Harry Stylli, Ph.D., Sequenom's President and CEO.
"Although we are pleased with these early results and are on track, we will continue to develop our noninvasive SEQureDx Technology for Trisomy 21 testing during 2008, as well as for new tests, including other chromosomal disorders. To maximize impact on patient management, we aim to deliver a test that is suitable for administration during the latter part of the first trimester through the early second trimester of pregnancy."
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