A non-invasive approach to cell-free DNA (cfDNA) analysis in maternal blood for evaluation of two common fetal trisomies linked to genetic disorders has been detailed in new research. The publication of this data was announced by Aria Diagnostics (formerly Tandem Diagnostics), a molecular diagnostics company.
The results, assessing the detection of Trisomy 21 (associated with Down syndrome) and Trisomy 18 (associated with Edwards syndrome), were published online at http://onlinelibrary.wiley.com/doi/10.1002/pd.2922/full
"Our ability to identify pregnancies at high risk for chromosomal abnormalities has significantly improved over the last decade, but still has limitations in precision and cost," said Dr. Ronald Wapner, director of reproductive genetics at Columbia University Medical Center. "The data shows significant improvement over presently available approaches to prenatal evaluation and will offer our patients important information about their pregnancy without the inherent risks of invasive testing."
In the study, cfDNA was analyzed from the blood samples of 298 pregnant women in the US using Aria Diagnostics' highly multiplexed assay, known as Digital Analysis of Selected Regions (DANSR), for loci on chromosomes 21 and 18. The technology was able to correctly distinguish all cases with confirmed fetal abnormalities. In contrast to other cfDNA approaches, Aria's method is more efficient and selective in analyzing genetic material, which leads to a greater than ten-fold improvement on the sequencing throughput.
"These findings demonstrate that our technology can deliver on the promise of making molecular diagnostics more affordable and accessible to a broad population," explained Ken Song, chief executive officer of Aria Diagnostics and co-author of the study. "We are very excited about this first publication that demonstrates the potential for a non-invasive test that is highly accurate, cost efficient and scalable."