Extended application of BACs-on-Beads technique in prenatal diagnosis

Abstract

IntroductionThis study explored the application of bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique, especially its ability to detect microdeletion/microduplication regions with a single probe.Material and methodsBoth chromosome karyotyping and BoBs technique were applied on a total of 2218 pregnant women. Chromosome microarray analysis (CMA) was performed on patients whose cells were reported as being abnormal by BoBs technique with a single probe.ResultsTwenty-two cases were detected as microdeletion/microduplication with a single probe, which was consistent with the CMA results.ConclusionsWe believe that the microdeletion/microduplication results detected by BoBs technique with a single probe provide comprehensive guidance for prenatal diagnosis.

Prenatal diagnosis and pregnancy outcomes in high-risk and borderline high-risk pregnant women for Down syndrome

“…Whereas BoBs ™ and CMA show similar e cacy in detecting aneuploidy number abnormalities [10,11], they differ substantially in their ability to detect CNVs. In this study, we examined 2,732 pregnant women who underwent the BoBs ™ test, revealing only four cases of PCNVs.…”