Abstract
Use of massively parallel shotgun sequencing (MPSS) to precisely quantify the chromosomal composition of cell free DNA (cfDNA) from maternal blood has shown promise for non-invasive detection of fetal aneuploidy. Because MPSS involves analysis of DNA from the entire genome, the number of sequencing reads required for aneuploidy detection constrains the efficiency, scalability, and thus, clinical utility of this approach. To address these limitations, we developed and evaluated a novel method, Digital ANalysis of Selected Regions (DANSR(TM)), which uses ligation of locus-specific oligos to produce sequencing template only from selected genomic loci.
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