Prenatal BoBs™ has a sensitivity of 57.1% in the detection clinical mosaic cases. According to the validation test, mosaicism of 20% or greater is detectable by the BoBs™ assay.

CV (0.8%) and AF (0.3%) samples showed discrepant results after culturing and 40% of discrepancy involved the sex chromosomes. QF-PCR on long-term culture was concordant with karyotyping results meaning that QF-PCR is technically sound. Discrepant PCR findings in uncultured prenatal samples likely arose from mosaicism or preferential cell culture. Limitations in abnormal QF-PCR results may be discussed with couples before further action.

This new strategic approach using BoBs as a first tier PGS screening tool and aCGH as a confirmatory tool can increase the throughput of PGS with a reduced cost and time to meet the demand in high volume units.