×

New Data From CombiMatrix Study Support Follow-Up Diagnostic Testing to Confirm Positive Results From Non-Invasive Prenatal Testing

IRVINE, Calif., Oct. 9, 2015 (GLOBE NEWSWIRE) -- CombiMatrix Corporation (NASDAQ:CBMX), a molecular diagnostics company specializing in DNA-based testing services for prenatal and postnatal developmental disorders and pre-implantation genetic screening services, announces the presentation of data supporting the value of follow-up diagnostic testing to confirm or rule out positive results for common chromosomal aneuploidies and microdeletion syndromes detected by non-invasive prenatal testing (NIPT). Data from the unpublished study conducted by CombiMatrix were presented by Trilochan Sahoo, M.D., FACMG, CombiMatrix's Vice President of Clinical Affairs and Director of Cytogenetics, in a presentation late yesterday at the 2015 American Society of Human Genetics (ASHG) conference underway in Baltimore.

"The use of NIPT to detect common fetal chromosomal abnormalities is increasing, yet we found significant rates of false positive test results after subsequent follow-up testing with microarray and karyotyping," said Dr. Sahoo. "Importantly, in addition to the well-documented high false positive rates for some aneuploidies, our data show significant false positive rates for microdeletions. These data suggest NIPT results that are positive for an abnormality often turn out to be normal after a follow-up diagnostic test such as those offered by CombiMatrix. Our ability to expand upon the NIPT findings provides highly valuable diagnostic information to patients and their families."

Common chromosomal aneuploidies include Down (trisomy 21), Edwards (trisomy 18) and Patau (trisomy 13) syndromes. Chromosomal microdeletions are associated with conditions such as intellectual disability, seizures, autism spectrum disorder and neuropsychiatric disorder, among others.

The unpublished CombiMatrix study, "Expanding non-invasive prenatal testing to include microdeletions and segmental aneuploidy: Cause for concern?," was performed by Dr. Sahoo and evaluated outcome and concordance results of NIPT with invasive diagnostic testing using both fetal karyotype and/or prenatal microarray from 290 cases in women with both high- and low-risk pregnancies. Highlights of the study's findings include:

  • The overall true positive and false positive rates for NIPT compared to diagnostic testing were estimated at approximately 70% and 20%, respectively.
  • The chromosome-specific true positive and false positive rates, respectively, were 84% and 12% for Trisomy 21; 82% and 18% for trisomy 18; 53% and 47% for trisomy 13; and 44% and 56% for X-Y chromosome aneuploidies.
  • For 25 cases predicted by NIPT to have a microdeletion or duplication, the overall true positive and false positive rates were 30% and 70%, respectively. The outcomes for false positive rates were 71% for 22q11.2 deletion (DiGeorge syndrome); 75% for 1p36 deletion; and 83% for 5p deletion.

"Recently published findings suggest a cautious approach to the interpretation of NIPT results based on the higher-than-previously reported over-representation of the positive predictive value for specific aneuploidies," said Mark McDonough, President and Chief Executive Officer of CombiMatrix. "These new study data support that it is absolutely essential to follow-up positive results from NIPT with invasive prenatal diagnostic testing for both aneuploidies and microdeletions to preclude errors in diagnosis. The data suggest that a comprehensive approach in these situations benefits the patient and that clinical decisions should not be undertaken based purely upon NIPT results."

About ASHG 2015

ASHG 2015 provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics: at invited platform and poster sessions; on the trade show floor; and at interactive workshops and events. The largest human genetics meeting and expo worldwide, ASHG 2015 is expected to attract over 6,500 scientific attendees and over 200 exhibiting companies.

About CombiMatrix Corporation

CombiMatrix Corporation provides valuable molecular diagnostic solutions and comprehensive clinical support to foster the highest quality in patient care. CombiMatrix specializes in prenatal diagnostics, miscarriage analysis for recurrent pregnancy loss, pediatric genetics and pre-implantation genetic screening, offering DNA-based testing for the detection of genetic abnormalities beyond what can be identified through traditional methodologies. CombiMatrix performs genetic testing utilizing a variety of advanced cytogenomic techniques, including chromosomal microarray, standardized and customized fluorescence in situ hybridization (FISH) and high-resolution karyotyping. CombiMatrix is dedicated to providing high-level clinical support for healthcare professionals in order to help them incorporate the results of complex genetic testing into patient-centered medical decision making. Additional information about CombiMatrix is available at www.combimatrix.com or by calling (800) 710-0624.

Safe Harbor Statement under the Private Securities Litigation Reform Act of 1995

This press release contains forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These statements are based upon our current expectations, speak only as of the date hereof and are subject to change. All statements, other than statements of historical fact included in this press release, are forward-looking statements. Forward-looking statements can often be identified by words such as "anticipates," "expects," "intends," "plans," "goal," "predicts," "believes," "seeks," "estimates," "may," "will," "should," "would," "could," "potential," "continue," "ongoing," similar expressions, and variations or negatives of these words and include, but are not limited to, statements regarding projected results of operations and management's future business, operational and strategic plans, recruiting efforts and test menu expansion. These forward-looking statements are not guarantees of future results and are subject to risks, uncertainties and assumptions that could cause our actual results to differ materially and adversely from those expressed in any forward-looking statement. The risks and uncertainties referred to above include, but are not limited to: whether follow-up diagnostic testing is more reliable than NIPT; whether the CombiMatrix study contains errors or could be contradicted or disproven by other studies; our ability to successfully expand the base of our customers and strategic partners, add to the menu of our diagnostic tests, develop and introduce new tests and related reports, expand and improve our current suite of services, optimize the reimbursements received for our microarray testing services, and increase operating margins by improving overall productivity and expanding sales volumes; our ability to successfully accelerate sales, steadily increase the size of our customer rosters in both prenatal and developmental genetic testing markets; our ability to attract and retain a qualified sales force in wider geographies; our ability to ramp production from our sales force and our strategic partners; rapid technological change in our markets; changes in demand for our future services; legislative, regulatory and competitive developments; the outcome of pending litigation; general economic conditions; and various other factors. Further information on potential factors that could affect our financial results is included in our Annual Report on Form 10-K, Quarterly Reports of Form 10-Q, and in other filings with the Securities and Exchange Commission. We undertake no obligation to revise or update publicly any forward-looking statements for any reason, except as required by law.

CONTACT: Company Contact: Mark McDonough President & CEO, CombiMatrix Corporation (949) 753-0624 Investor Contact: LHA Jody Cain (310) 691-7100 jcain@lhai.com Media Contact: Russo Partners LLC David Schull or Lena Evans (212) 845-4271 david.schull@russopartnersllc.com lena.evans@russopartnersllc.com

Source:CombiMatrix Corporation