Verinata Health Announces Presentation and Publication of Top-Line Clinical Validation Study Results for its verifi(TM) Non-Invasive Prenatal Test
REDWOOD CITY, Calif., Feb. 13, 2012 /PRNewswire/ — Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced the presentation of 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 study 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.
“The Verinata test correctly detected all cases of trisomy 21 with 100 percent sensitivity and specificity, and conclusively ruled out all false positives for the three major trisomies through a single, non-invasive maternal blood sample,” said Diana Bianchi, M.D., of the Mother Infant Research Center at Tufts Medical Center. “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. Importantly, 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. In addition, the results show the ability to correctly classify cases of monosomy X (Turner syndrome) and shows promise for other sex chromosome abnormalities.”
The oral presentation reporting results of the Verinata study was entitled “Genome Wide Fetal Aneuploidy Detection by Sequencing of Maternal Plasma DNA: Diagnostic Accuracy in a Prospective, Blinded, Multicenter Study” (Abstract #837). The results were presented by Dr. Bianchi in a special session for late-breaking research at the 32(nd) Annual Meeting of the Society for Maternal-Fetal Medicine (SMFM) based on its value to the field of maternal-fetal medicine. The abstract is publicly available in the online January issue of the American Journal of Obstetrics & Gynecology (http://www.ajog.org/article/S0002-9378%2811%2902362-3/fulltext).
“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, chief executive officer 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(TM) non-invasive prenatal test specifically for the detection of Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) on March 1, 2012.
Top-Line MELISSA (MatErnal BLood IS Source to Accurately detect fetal aneuploidy) Study Results
The prospective, blinded study included 2882 samples of maternal blood from over 60 sites in the United States. All singleton pregnancies with any abnormal karyotype and a balance of subjects with euploid karyotypes were randomly selected by an independent biostatistician. The objective of the Verinata clinical validation study was to prospectively determine the diagnostic accuracy of Massively Parallel Sequencing (MPS) to detect whole chromosome fetal aneuploidy. Five hundred thirty-two samples were analyzed to detect fetal aneuploidies across the genome using massively parallel sequencing in combination with Verinata Health’s proprietary algorithm. Results showed that Verinata’s test correctly identified all 89 cases of trisomy 21 (T21) with 100 percent sensitivity and specificity. In addition, the test detected trisomy 18 (T18) and trisomy 13 (T13) with 100 percent specificity for both, and 97.3 percent (35/36) and 78.6 percent (11/14) sensitivity, respectively. The test also detected monosomy X (Turner syndrome), mosaicism for T21, T18 and monosomy X, translocation trisomies, a single instance of each of trisomy 20 and trisomy 16, and several sex chromosome aneuploidies.
In addition to Bianchi, the study was conducted by Lawrence Platt, David Geffen School of Medicine at UCLA, Obstetrics and Gynecology, Los Angeles, Calif.; James Goldberg, San Francisco Perinatal Associates, Prenatal Diagnosis Center, San Francisco, Calif.; Alfred Abuhamad, Eastern Virginia Medical School, Department of Obstetrics and Gynecology, Norfolk, Va.; Richard Rava, Verinata Health, Inc., Research & Development, Redwood City, Calif.; and Amy Sehnert, Verinata Health, Inc., Clinical Research, Redwood City, Calif. on behalf of the MELISSA study group.
About Massively Parallel Sequencing for Non-Invasive Prenatal Testing
Aneuploidy is an abnormal number of chromosomes and a common cause of genetic disorders. Because a single tube of maternal blood contains billions of cell free DNA fragments from both the mother and the fetus, aneuploidies can be detected from the cell free DNA. Massively parallel sequencing allows millions of these DNA fragments to be sequenced at the same time (i.e. the order of the nucleotides (adenine (A), cytosine (C), guanine (G) and thymine (T) determined) and their unique locations within the genome to be determined. By counting the number of sequence fragments that are identified on each chromosome, and corrected for variations in the sequencing process through Verinata’s proprietary method, the over- or under-representation of any chromosome in the cell free DNA mixture can be determined. Using Verinata’s proprietary algorithm for the evaluation of representative levels, if a specific chromosome is substantially over-represented in the sequence, this indicates a fetus positive for trisomy (three copies of a chromosome instead of the expected two), and under-representation indicates a monosomy (one copy of a chromosome). Consequently, Verinata’s technology can potentially detect the presence of any chromosomal aneuploidy across the genome utilizing massively parallel sequencing.
Verinata Health, Inc.
Verinata is driven by a sole, extraordinary purpose – maternal and fetal health. Our initial focus is to develop and offer non-invasive tests for early identification of fetal chromosomal abnormalities using our proprietary technologies. We aim to reduce the anxiety associated with today’s multi-step process, the unacceptable false-positive rates, the non-specific and sometimes confusing results of current prenatal screening methods, as well as the risk of current invasive procedures. In support of national guidelines recommending first trimester aneuploidy risk assessment, we believe women who desire such an assessment should be offered a single blood draw test with a definitive result. For more information about Verinata or the verifi(TM) prenatal test, please go to www.verinata.com.
SOURCE Verinata Health, Inc.