Verinata Health, a privately-held company dedicated to maternal and fetal health, has released top-line results from its prospective, blinded, multicenter validation study to detect fetal chromosomal aneuploidies, or an abnormal number of chromosomes, across the entire genome.
The Verinata test correctly detected all cases of trisomy 21 with 100% sensitivity and specificity, and conclusively ruled out all false positives for the three major trisomies (13, 18, 21) through a single, non-invasive maternal blood sample. It also detected monosomy X (Turner syndrome); mosaicism for T21, T18 and monosomy X; translocation trisomies; a single instance each of trisomy 20 and trisomy 16; and several sex chromosome aneuploidies.
The study, which included 2,882 samples of maternal blood from over 60 sites in the U.S., was specifically designed to include all samples with any abnormal karyotype in order to emulate real-world testing in which fetal chromosome status is not known a priori.
"This is the first prospective study to report results from samples with a wide range of chromosomal abnormalities, directly simulating implementation of non-invasive prenatal testing in clinical practice,” said Diana Bianchi, M.D., of the Mother Infant Research Center at Tufts Medical Center.
Beyond the superior results to serum screening for the three most common trisomies, the study included samples from women who became pregnant through assisted reproduction techniques (ART) and detected mosaic and translocation forms of the major trisomies.
"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," stated Caren L. Mason, CEO of Verinata. "We look forward to working with physicians and genetic counselors to offer safer, earlier, and more definitive information to improve the accuracy of, and reduce the anxiety associated with, existing prenatal screening methods."
Verinata intends to launch its proprietary verifi non-invasive prenatal test specifically for the detection of Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) March 1.