Original Article

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The detection of mosaicism by prenatal BoBs™

  1. Yvonne K.Y. Cheng1,
  2. Cherry Wong1,
  3. Hoi Kin Wong1,
  4. Kwok On Leung1,
  5. Yvonne K. Kwok1,
  6. Andy Suen1,
  7. Chi Chui Wang1,
  8. Tak Yeung Leung1,2,
  9. Kwong Wai Choy1,2,3,*

Article first published online: 20 NOV 2012

DOI: 10.1002/pd.4006

Issue

Prenatal Diagnosis

Prenatal Diagnosis

Volume 33, Issue 1, pages 42–49, January 2013

Additional Information

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

Author Information

  1. 1

    Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China

  2. 2

    CUHK-BGI Innovation Institute of Trans-omics, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China

  3. 3

    CUHK-Shenzhen Research Institute, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China

*Kwong Wai Choy. E-mail: richardchoy@cuhk.edu.hk

  1. Funding sources: This work is partly supported by the Hong Kong General Research Grant and the National Basic Research Program of China (2012CB944600).

  2. Conflicts of interest: None declared

Publication History

  1. Issue published online: 7 JAN 2013
  2. Article first published online: 20 NOV 2012

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ABSTRACT

Objective

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).

Methods

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.

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).

Conclusion

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.

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