Aria Diagnostics Demonstrates Potential for Non-Invasive Prenatal Genetic Test

13 Jan 2012
Sonia Nicholas
Managing Editor and Clinical Lead

Product news

Aria Diagnostics has announced publication of data supporting a non-invasive approach to cell-free DNA (cfDNA) analysis in maternal blood for the evaluation of Trisomy 21 (associated with Down syndrome) and Trisomy 18 (associated with Edwards syndrome).

cfDNA for loci on chromosomes 21 and 18, was analyzed from the blood samples of 298 pregnant women in the US using a highly multiplexed assay from Aria Diagnostics, known as Digital Analysis of Selected Regions (DANSR?). The technology was able to correctly distinguish all cases with confirmed fetal abnormalities. Aria’s method of cfDNA analysis has proved to be more efficient and selective in analyzing genetic material, which leads to a greater than ten-fold improvement on the sequencing throughput.

"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."

"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."

Tags

Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Prenatal TestingTrisomy 21Trisomy 18