Verinata Health Publishes Proof-of-Concept Data Showing Non-Invasive Fetal Karyotype Equivalent to Invasive Procedures

- Peer-Reviewed Article Published in American Journal of Human Genetics Demonstrates Non-Invasive Prenatal Detection of Fetal Subchromosomal Abnormalities -

Jan 10, 2013, 12:00 ET from Verinata Health, Inc.

REDWOOD CITY, Calif., Jan. 10, 2013 /PRNewswire/ -- Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced that its proprietary prenatal technology can detect fetal subchromosomal abnormalities non-invasively from maternal blood. These proof-of-concept data show that Verinata's proprietary approach together with deep massively parallel sequencing (MPS) is able to produce a non-invasive fetal karyotype equivalent to that provided by invasive procedures utilizing microarrays.


The results of this landmark study, titled "Non-Invasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma," were published today in the online version of The American Journal of Human Genetics, found at A print version will also be available in the February 7, 2013 issue of the journal.

"Our study shows that medically relevant information currently available only through an invasive prenatal procedure is accessible non-invasively from a single maternal blood sample," said Richard Rava, Ph.D., Chief Scientific Officer of Verinata Health. "We believe that in the near future it may be possible to offer much more comprehensive non-invasive prenatal tests, removing the risk associated with invasive procedures such as amniocentesis."

About This Publication and Massively Parallel Sequencing for Non-Invasive Prenatal Testing

A single tube of maternal blood contains billions of cell-free DNA fragments from both the mother and the fetus. MPS 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. 

This publication reports on 11 samples from Verinata's previously conducted, large, blinded, prospective validation study (Maternal Blood is Source to Accurately Identify Fetal Aneuploidy, or the MELISSA study) known to have complex karyotypes. These complex karyotypes included variations in the genetic material that make up the individual chromosomes. These variations, called subchromosomal abnormalities, included duplications and deletions of genetic material, translocations (movement of a segment of a chromosome to a different location on the same or different chromosome) and mosaicisms (cells containing different genetic makeup within the same person). The data presented in the publication demonstrate that Verinata's proprietary approach to non-invasive testing has the potential to detect the presence of both whole and subchromosomal abnormalities across the genome.

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. We support national guidelines and the recent American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine Committee Opinion recommending cell-free DNA prenatal testing is one option that can be used as a primary or secondary screening test in women at increased risk of aneuploidy. We believe women who desire such testing should be offered a single blood draw test with a definitive result. The verifi® prenatal test is available through a physician. For more information about Verinata, please go to

SOURCE Verinata Health, Inc.