Homo sapiens Raw sequence reads

To determine the performance characteristics of a fully-automated laboratory-developed non-invasive prenatal screening (NIPS) assay for fetal aneuploidies designed to improve discrimination between affected and unaffected pregnancies. The NIPS method employs massively parallel shotgun sequencing with automation of all steps. Maternal plasma samples from pregnancies with known aneuploidy status or was obtained from commercial sources for use in assay development, verification, and validation. Correction for GC sequencing bias and additional statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. This laboratory-developed NIPS test demonstrates excellent discrimination between trisomic and unaffected pregnancies. The PPVs obtained for this assay in initial clinical testing are substantially higher than with previously reported NIPS methods.