Revolutionary DNA technology
A variety of cell-free DNA (cfDNA) analysis methods have been developed to test for fetal trisomies in maternal blood. These fall into two categories: random sequencing (also called massively parallel shotgun sequencing) and directed DNA analysis. The Harmony Prenatal Test uses directed DNA analysis.
Compared to random sequencing, directed cfDNA analysis is simpler, less costly, and more precise. It also provides individualized prenatal test results for trisomy risk.
Massively parallel shotgun sequencing (MPSS)
MPSS analyzes a random subset of cfDNA fragments sampled from maternal blood, comprising millions of molecules. This leads to variability between chromosomes and massive inefficiency in terms of data use, operating costs, and versatility. Results are population-based.
Directed DNA analysis
With directed analysis, specific cfDNA fragments from maternal blood are uniformly analyzed across all samples–approximately a tenth the number required for MPSS. This reduces variability and makes it easier to optimize assay conditions and informatics requirements.