MNT: Successful Diagnostic Test For Fetal Aneuploidies, Including Down Syndrome

In a study presented at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting^TM, in Dallas, Texas, researchers reported findings that indicate that massively parallel sequencing can be used to diagnose fetal aneuploidies, including Down syndrome, Edwards syndrome, Patau syndrome and Turner syndrome.

Because of the importance of the clinical data, the abstract, entitled Genome Wide Fetal Aneuploidy Detection by Sequencing of Maternal Plasma DNA: Diagnostic Accuracy in a Prospective, Blinded, Multicenter Study, was given late-breaker status. The study demonstrated that it was possible to use massively parallel sequencing of maternal plasma DNA in combination with a proprietary algorithm to detect the three most prevalent fetal aneuploidies (an abnormal number of chromosomes in the fetus). With this clinical evidence, this prenatal test may be incorporated into routine prenatal care...

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