High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma.

ABSTRACT:

Background

Circulating cell-free (ccf) fetal DNA comprises 3-20% of all the cell-free DNA present in maternal plasma. Numerous research and clinical studies have described the analysis of ccf DNA using next generation sequencing for the detection of fetal aneuploidies with high sensitivity and specificity. We sought to extend the utility of this approach by assessing semi-automated library preparation, higher sample multiplexing during sequencing, and improved bioinformatic tools to enable a higher throughput, more efficient assay while maintaining or improving clinical performance.

Methods

Whole blood (10mL) was collected from pregnant female donors and plasma separated using centrifugation. Ccf DNA was extracted using column-based methods. Libraries were prepared using an

SUBMITTER: Jensen TJ 

PROVIDER: S-EPMC3590217 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature