Sequenom announces availability of MaterniT21 LDT

The Sequenom Center for Molecular Medicine has launched its noninvasive MaterniT21 laboratory developed test (LDT) to detect Trisomy 21, the most common cause of Down syndrome. The MaterniT21 LDT is available to doctors upon request in 20 metropolitan regions across the U.S.

The test is indicated for use in pregnant women who have a high risk of carrying a fetus with Down syndrome, and it can accurately assess maternal blood as early as 10 weeks of gestation. In the U.S. alone, there are an estimated 750,000 such high-risk pregnancies each year, according to a company statement.

A validation study conducted between April 2009 and February 2011 assessed plasma samples from women between 10 and 22 weeks gestation at high-risk for carrying a fetus with Down syndrome. The Sequenom CMM testing methodology was evaluated for sensitivity and specificity against a total of 212 Down syndrome samples and 1,484 matched samples from unaffected pregnancies. In the initial round of uncorrected blinded analysis, the test identified 209 of the 212 cases of Down syndrome with three false positives and three false negatives.  In the corrected blinded analysis, an adjustment to certain DNA variables was applied. The test then correctly identified 210 of the 212 samples (99.1% accuracy) with just one false positive and two false negatives.

- here's the release