OREANDA-NEWS. CombiMatrix Corporation (NASDAQ:CBMX), a family health molecular diagnostics company specializing in DNA-based reproductive health and pediatric testing services, announces the presentation of new data from a large-scale, first-of-its kind study providing a comprehensive assessment of chromosomal imbalances and their adverse impact upon human growth and development from conception to childhood. Results from nearly 32,000 samples analyzed in this study indicate that genomic alterations decrease in frequency and severity from conception through development into childhood.  Trilochan Sahoo, M.D., FACMG, CombiMatrix Vice President of Clinical Affairs and Director of Cytogenetics, will discuss these results today at the American Society of Human Genetics Annual Meeting (ASHG) in Orlando, Fla.   

This study is aimed at exploring and cataloging the frequency, severity and complex evolution of genomic abnormalities with adverse effects on human conception, pregnancy and childhood growth and development.  Data was obtained from CombiMatrix’s exclusive data collected over a multi-year period.

The abstract reviews outcomes from preimplantation genetic screening (PGS) of 6,883 embryos and chromosomal microarray analysis testing of 12,324 pregnancy loss samples, 4,176 prenatal samples, 1,564 neonatal samples and 7,047 pediatric samples.  The study showed a spectrum of unbalanced genomic abnormalities 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 had less drastic adverse effects.

“This is the first study to provide a comprehensive overview of the nature and frequency of cytogenomic abnormalities with adverse effects from the earliest post-conception developmental stages (i.e., embryos) through pregnancy and into childhood,” said Dr. Sahoo.  “Analysis of this larger sample set validates our previous findings that showed an interesting pattern elucidating genomic alterations of decreasing severity as human growth progresses these developmental stages. This opens a new window into the errors and corrective mechanisms at play at a cellular level during various stages of human development.”
“These results support the importance of genomic testing for different abnormalities that may occur at distinct development stages,” said Mark McDonough, CombiMatrix President and CEO. “We now have even more compelling evidence of the importance of the genetic information produced from this testing from preconception through early childhood. It is our goal to provide useful and timely information that can help physicians and their patients make important health decisions.”                                 

About CombiMatrix Corporation

CombiMatrix Corporation provides sophisticated 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 chromosomal microarray analysis, next generation sequencing, fluorescent in situ hybridization and high resolution karyotyping.