Verinata Health Announces Publication of Key Data Reporting Non-Invasive Prenatal Diagnostic Test Potential
SAN CARLOS, Calif., April 26, 2011 -- Verinata Health, Inc., (Verinata) a privately-held company dedicated to maternal and fetal health, today announced the publication of study results using its proprietary prenatal test to accurately identify multiple fetal chromosomal abnormalities from maternal blood. All trisomy 21 and trisomy 18 test samples were classified correctly. The publication, entitled 'Optimal Detection of Fetal Chromosomal Abnormalities Using Massively Parallel DNA Sequencing of Cell Free Fetal DNA from Maternal Blood,' appears online today at http://www.clinchem.org/cgi/content/abstract/clinchem.2011.165910and will appear in an upcoming print issue of Clinical Chemistry.
"Screening tests that we order today lead us directionally to a probability of a fetus being affected with a chromosomal abnormality. In order to determine a definitive diagnosis, we offer expectant mothers deemed to be high risk from the screening profile, the option of an invasive procedure, which carries a small but unwanted risk of miscarriage," said Alfred Z. Abuhamad, M.D., Professor of Obstetrics and Gynecology, Chair of the Department of Obstetrics and Gynecology, and Associate Dean for Clinical Affairs at Eastern Virginia Medical School. "The data reported today provides preliminary evidence that it is possible to have a non-invasive prenatal diagnostic test to accurately determine multiple fetal chromosomal abnormalities."
"It is very exciting to see new frontiers in maternal and fetal health move closer to becoming a reality for our patients," said Lawrence W. Platt, M.D., Professor of Obstetrics and Gynecology at the David Geffen School of Medicine at UCLA and Director of the Center for Fetal Medicine and Women's Ultrasound in Los Angeles. "As the standard of practice is now to offer prenatal diagnosis to all of our patients, independent of age, the need for non-invasive diagnostic testing for chromosomal abnormalities without risk of miscarriage continues to be one of the highest priorities in diagnostic testing."
Blood samples were collected from 1,014 patients at 13 U.S. clinic locations prior to an invasive prenatal procedure (chorionic villus sampling, or CVS, or amniocentesis). Samples were selected for use as training or test samples. For 119 samples selected for study, cell-free DNA (cfDNA) was extracted from the maternal plasma and the cfDNA was sequenced using massively parallel sequencing. Sixty-five of the samples were used as a training set to define a proprietary classification algorithm that was able to correctly identify 100 percent of trisomy 21 and trisomy 18 samples in an independent test set.
"Our study provides preliminary evidence of the accuracy and reliability of massively parallel sequencing coupled with our proprietary, optimized algorithm, to detect multiple fetal chromosomal aneuploidies using a single maternal blood sample," said Richard Rava, Ph.D., President and Co-Scientific Founder of Verinata. "Importantly, because we are collecting information across the entire genome, this testing method has the potential to detect any fetal chromosomal abnormality, including trisomies, monosomies and small insertions and deletions. Our first commercial test using this method will be a simple, non-invasive, alternative to the invasive testing methods of today."
Test Set Results
In the test set samples, 13 out of 13 trisomy 21 (associated with Down syndrome) fetuses were correctly identified and eight out of eight fetuses with trisomy 18 (associated with Edwards syndrome) were correctly identified. In addition, the Verinata algorithm demonstrated the ability to detect trisomy 9 in one test sample as well as the presence of trisomy 21 in two sets of twin pregnancies having at least one affected fetus, neither of which has been previously shown in the literature. All 47 test samples were correctly classified for the autosomes and the sex chromosomes.
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. Verinata is conducting a prospective, blinded pivotal study to clinically validate the sensitivity and specificity of its first prenatal test on a large scale with results of the study expected in 2011. For more information about Verinata, please go to www.verinata.com.