Funding sources: This work is partly supported by the Hong Kong General Research Grant and the National Basic Research Program of China (2012CB944600).
The detection of mosaicism by prenatal BoBs™
Article first published online: 20 NOV 2012
© 2012 John Wiley & Sons, Ltd.
Volume 33, Issue 1, pages 42–49, January 2013
How to Cite
Cheng, Y. K.Y., Wong, C., Wong, H. K., Leung, K. O., Kwok, Y. K., Suen, A., Wang, C. C., Leung, T. Y. and Choy, K. W. (2013), The detection of mosaicism by prenatal BoBs™. Prenat. Diagn., 33: 42–49. doi: 10.1002/pd.4006
Conflicts of interest: None declared
- Issue published online: 7 JAN 2013
- Article first published online: 20 NOV 2012
The objective of the study was to evaluate the ability of a new prenatal diagnostic platform – prenatal BACs-on-Beads™ (BoBs™) in detecting mosaicism by comparison to quantitative fluorescence-polymerase chain reaction (QF-PCR).
A validation study of prenatal BoBs™ was firstly performed using 18 artificially constructing mosaic samples involving various aneuploidies and microdeletion conditions. Additionally, we compared the accuracy between prenatal BoBs™ and QF-PCR for 18 archived clinical mosaic cases and nine chromosomally abnormal cell lines with reference to conventional karyotype results.
In the validation study, BoBs™ allowed the detection of mosaicism at a level of 20–40%. Among the clinical mosaic cases, 14/18 cases were within the detection of BoBs™, 8/14 (57.1%) could be identified by BoBs™ and 6/9 (66.7%) by QF-PCR, but 6/14 (42.9%) were missed by both tests. Three cases (16.7%) were detected by prenatal BoBs™ but missed by QF-PCR, whereas QF-PCR detected one case that was missed by BoBs™. The overall sensitivity of BoBs™ in detecting mosaicism is 44.4% (8/18), which is slightly higher than that of QF-PCR (33.3%; 6/18).
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. © 2012 John Wiley & Sons, Ltd.