AneuVysion Assay, the first prenatal genetic test for Down syndrome and other chromosomal disorders associated with mental retardation and birth defects, has been approved by the FDA. The AneuVysion Assay is designed for routine use as an adjunct to standard cytogenic analysis. The test--a multicolored DNA probe panel--also can be used alone in medically urgent situations.
In a pivotal comparative study of the AneuVysion Assay at 31 clinical sites, 2,238 specimens were analyzed from 1,516 patients. Analysis of the AneuVysion Assay on interphase nuclei was compared with standard cytogenic analysis. Based on the cutoff point of 60 percent aneuploid nuclei, the test's relative sensitivity was 99.9 percent, and specificity was 100 percent for detecting Down syndrome, trisomy 18, and trisomy 13, and other sex-linked chromosomal disorders, including Turner and Kleinfelter syndromes.