The detection of mosaicism by prenatal BoBs™

Authors

  • Yvonne K.Y. Cheng,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Cherry Wong,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Hoi Kin Wong,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Kwok On Leung,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Yvonne K. Kwok,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Andy Suen,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Chi Chui Wang,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Tak Yeung Leung,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
    2. CUHK-BGI Innovation Institute of Trans-omics, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Kwong Wai Choy

    Corresponding author
    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
    2. CUHK-BGI Innovation Institute of Trans-omics, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
    • CUHK-Shenzhen Research Institute, Chinese University of Hong Kong, Shatin, Hong Kong SAR, China
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  • Funding sources: This work is partly supported by the Hong Kong General Research Grant and the National Basic Research Program of China (2012CB944600).

  • Conflicts of interest: None declared

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

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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