Abstract
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CombiMatrix has presented new data from a first-of-its kind study showing that genomic alterations decrease in frequency and severity from conception through development into childhood. The study—which analyzed nearly 32,000 samples—was intended to provide a comprehensive assessment of chromosomal imbalances and their adverse impact upon human growth and development from conception to childhood.
“These results support the importance of genomic testing for different abnormalities that may occur at distinct development stages,” CombiMatrix President and CEO Mark McDonough said in a statement. “We now have even more compelling evidence of the importance of the genetic information produced from this testing from preconception through early childhood.”
Among key findings of the study:
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.