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Verinata Health Sets March Launch Date for Trisomy Test; Presents Results from Validation Study

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Verinata Health presented results from its fetal aneuploidy study this week at the Annual Society for Maternal-Fetal Medicine meeting and has set a March 1 launch date for its noninvasive sequencing-based test, which it will market for the detection of trisomy 21, 18, and 13.

Along with the presentation, the study's abstract was published online in the American Journal of Obstetrics and Gynecology.

The prospective, blinded validation study included 2,882 samples of maternal blood from more than 60 different sites in the US. Singleton pregnancies with abnormal karyotypes and a balanced number of pregnancies with euploid karyotypes were randomly selected for screening for a total of 532 samples.

The test accurately identified all 89 cases of trisomy 21, 35 out of 36 cases of trisomy 18, and 11 out of 14 cases of trisomy 13 with no false positives.

Additionally, the test detected monosomy X; mosaicism for T21, T18, and monosomy X; translocation trisomies; a single instance each of triosmy 20 and trisomy 16; and several sex chromosome aneuploidies.

"Our large validation study clearly demonstrates the value and unique capabilities of our proprietary algorithm coupled with massively parallel sequencing to accurately detect a wide variety of fetal chromosomal aneuploidies," Caren Mason, Verinata's CEO, said in statement.

Verinata uses a massively parallel shotgun sequencing approach that is similar to the one employed in Sequenom's MaterniT21 test, which was launched in October and recently expanded to include trisomy 18 and 13 diagnosis (CSN 2/8/2012).

Verinata will not only face competition from Sequenom in the marketplace, but will also have to contend with the company's intellectual property position. Sequenom holds a broad patent for the detection of fetal DNA in maternal plasma and has previously said that other tests would infringe on that patent.

Sequenom is already involved in legal disputes with Aria Diagnostics and Natera, both of which are also developing sequencing-based tests for trisomy 21 (CSN 1/25/2012).

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