Data presented at ASHG meeting show success of miscarriage analysis by chromosomal microarray

CombiMatrix Corporation, a molecular diagnostics company specializing in DNA-based testing services for pre- and postnatal developmental disorders, today announced data from a comprehensive, multi-year analysis of products of conception (POC) testing by chromosomal microarray analysis (CMA). The results indicate that CMA yields a successful result in more than 85% of cases. Trilochan Sahoo, MD, Director of Cytogenetics for CombiMatrix, is presenting results today at the American Society of Human Genetics (ASHG) annual meeting in San Diego.

CombiMatrix analyzed 3,408 consecutive specimens that included both fresh POC tissue and archived formalin-fixed, paraffin-embedded (FFPE) samples. Results showed that 2,345 out of 2,712 (86.5%) fresh POC samples and 492 out of 564 (87.2%) FFPE samples provided a successful result, with common reasons for test failure including insufficient sample size and poor DNA quality.

“Chromosomal abnormalities account for more than half of all first trimester pregnancy losses, and determining the cause of pregnancy loss can assist in providing appropriate medical management and recurrence risk counseling to patients,” says Dr. Sahoo. “Classical cytogenetic analysis of POC using karyotyping requires the successful culture of a fresh POC specimen and yields a successful result 60% of the time, on average, depending upon sample type. In contrast, CMA enables the direct analysis of both fresh and archived POC tissue, requiring only genomic DNA, and yields a successful result more often, thus offering meaningful advantages.”

For the study, CombiMatrix used three CMA platforms—BAC-aCGH, oligo-aCGH, and single nucleotide polymorphism (SNP) array. Of the three, the SNP array had the highest abnormality detection rate (53.8%) and, in addition to chromosomal imbalances, also identified cases with whole genome or multiple regions of allelic homozygosity. Learn more about microarray testing for miscarriage/recurrent pregnancy loss.