CombiMatrix to Present Large-Scale Study Indicating the Severity of Genomic Abnormalities Decreases from Conception to Childhood at the 2nd Congress on Recurrent Pregnancy Loss


IRVINE, Calif., Jan. 20, 2017 (GLOBE NEWSWIRE) -- CombiMatrix Corporation (NASDAQ:CBMX), a family health molecular diagnostics company specializing in DNA-based reproductive health and pediatric testing services, announces that results from a first-of-its-kind study spanning preimplantation genetic screening of embryos to microarray analysis for pediatric neurodevelopmental disorders will be presented on January 21, 2017, at the 2nd World Congress of Recurrent Pregnancy Loss in Cannes, France.  Trilochan Sahoo, M.D., FACMG, CombiMatrix Vice President of Clinical Affairs and Director of Cytogenetics, will discuss the results from more than 29,000 samples indicating that genomic alterations decrease in frequency and severity from conception through childhood.

This ambitious study was aimed at exploring and cataloging the variety, diversity and evolution of genomic abnormalities with adverse effects on human conception, pregnancy and childhood growth and development.  It included an exhaustive analysis of CombiMatrix’s exclusive data generated over the last few years.  An abstract of the study, “Unraveling the Diverse Landscape of Genomic Abnormalities from Conception to Childhood,” is available at http://combimatrix.com/providers/educational-references.  The abstract reviews outcomes from preimplantation genetic screening (PGS) of 3,349 embryos and chromosomal microarray analysis testing of 8,118 pregnancy loss samples, 3,245 prenatal samples, 1,351 neonatal samples and 7,047 pediatric samples.  A spectrum of unbalanced genomic abnormalities was detected in each sample type.  Key findings include:

  • Embryo or early pregnancy loss samples showed the highest abnormality rates and a predictable correlation between the severity of chromosomal abnormalities, primarily aneuploidies, with unsuccessful implantation or progression to viable pregnancy. 
  • Prenatal and neonatal samples showed that the frequency of significant genomic alterations correlated with the incidence of significant physical and developmental abnormalities, but were not necessarily incompatible with life. 
  • Pediatric samples were predominantly deletions and duplications rather than aneuploidy and with less drastic adverse effects.

“The knowledge that genomic rearrangements are an important cause of genetic disease provided a rationale for conducting this first comprehensive study analyzing correlations between cytogenomic abnormalities and adverse effects on human growth and development from conception into childhood,” said Dr. Sahoo.  “The results were highly informative in revealing an evolution of genomic alterations of decreasing severity as human growth progresses from conception through childhood. Importantly, we now have clear evidence that allows us to appreciate the delicate balances that the cellular machinery must maintain for normal genomic content and stability.”

“As more data are collected and analyzed on genomic abnormalities and their impact on early life, we gain a better understanding of the importance of genomic testing at different stages of development,” said Mark McDonough, CombiMatrix President and CEO.  “This study is yet another example of CombiMatrix’s commitment to driving scientific advancement as a market leader in recurrent pregnancy loss and reproductive health diagnostic testing. Our findings provide valuable information to physicians and their patients when deciding to employ molecular diagnostic testing from embryo preimplantation to early childhood.”

About CombiMatrix Corporation

CombiMatrix Corporation provides best-in-class molecular diagnostic solutions and comprehensive clinical support to foster the highest quality in patient care. CombiMatrix specializes in pre-implantation genetic diagnostics and screening, prenatal diagnosis, miscarriage analysis and pediatric developmental disorders, offering DNA-based testing for the detection of genetic abnormalities beyond what can be identified through traditional methodologies. Our testing focuses on advanced technologies, including single nucleotide polymorphism (“SNP”) chromosomal microarray analysis (“CMA”), next generation sequencing (“NGS”), fluorescent in situ hybridization (“FISH”) and high resolution karyotyping. Additional information about CombiMatrix is available at www.combimatrix.com or by calling (800) 710-0624.

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Company Contact:            Investor Contact:
Mark McDonough           LHA
President & CEO, CombiMatrix Corporation           Jody Cain
(949) 753-0624           (310) 691-7100
            jcain@lhai.com