The noninvasive test is a laboratory-developed test (LDT) that analyzes circulating cell-free DNA extracted from a maternal blood sample. It was developed by Sequenom Center for Molecular Medicine (SCMM; Grand Rapids, MI, USA), a life sciences company that provides genetic analysis solutions.

A large international, multicenter study was conducted at 27 prenatal diagnostic centers in the United States to validate the test. Scientists collected and processed maternal plasma samples from 4,664 pregnant women at high risk for fetal aneuploidy undergoing diagnostic testing in the late first and early second trimester.

A total of 62 trisomy 18 and 12 trisomy 13 pregnancies along with their matched controls were tested using the MaterniT21 LDT. When unblinded, the detection rate for trisomy 18 was 100% and for trisomy 13, was 91.7 %, with false positive rates of 0.28 and 0.97 percent, respectively.

The MaterniT21 test is available exclusively through Sequenom CMM as a testing service to physicians.

The study appeared on February 2, 2012 in the online issue of Genetics in Medicine.

Sequenom Center for Molecular Medicine (Sequenom CMM), a College of American Pathologists (CAP) accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified molecular diagnostics laboratory, is developing a broad range of diagnostics with a focus on prenatal diseases and conditions. These laboratory-developed tests provide beneficial patient management options for obstetricians, geneticists, and maternal fetal medicine specialists.

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Sequenom Center for Molecular Medicine