Diagnostic accuracy of the BACs‐on‐Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series

@article{Choy2014DiagnosticAO,
  title={Diagnostic accuracy of the BACs‐on‐Beads{\texttrademark} assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series},
  author={Kwong Wai Choy and Yk Kwok and Yky Cheng and Km Wong and Hk Wong and KO Leung and KW Suen and Karl Edwin Adler and CC Wang and Tk Lau and MJ Schermer and T. T. Lao and Ty Leung},
  journal={BJOG: An International Journal of Obstetrics \& Gynaecology},
  year={2014},
  volume={121},
  pages={1245 - 1252}
}
  • K. Choy, Y. Kwok, +10 authors T. Leung
  • Published 1 September 2014
  • Medicine
  • BJOG: An International Journal of Obstetrics & Gynaecology
To evaluate the diagnostic performance of the BACs‐on‐Beads™ (BoBs™) assay for prenatal detection of chromosomal abnormalities. 
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The BACs-on-Beads™ (BoBs™) assay was a multiplex, bead-based suspension array using microspheres with two distinct infra-red and red fluorochromes to generate more than 100 different unique probes....
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
TLDR
The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBsTM under different prenatal indications. Expand
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TLDR
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TLDR
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Evaluation of interpretation methods to improve accuracy of the prenatal BACs-on-Beads™ assay in prenatal diagnosis
TLDR
The results indicated that the present optimization method outperforms existing approaches in data interpretation for the PNBoBs™ assay, and as a result, may reduce unnecessary verification turnaround time and cost in prenatal diagnosis. Expand
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BACs-on-Beads assay is a reliable test for rapid detection of common aneuploidies and microdeletion syndromes, combining with karyotyping, FISH, and CMA, to improve the efficiency and accuracy of prenatal diagnosis to alleviate maternal emotional anxiety. Expand
BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping
TLDR
The findings suggest that BoBs™ is a reliable RAT which is suitable in combination with conventional karyotyping for the detection of common aneuploidies and improves the diagnostic yield by recognizing clinically relevant submicroscopic copy number gains and losses. Expand
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TLDR
The present review looks at the potential and limitations of prenatal molecular-based screening for fetal aneuploidies and the possible causes of false-positive and false-negative results. Expand
Cell-free fetal DNA (cffDNA) enrichment for non-invasive prenatal testing (NIPT) : a comparison of molecular techniques
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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 quantitativeExpand
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To develop a novel, rapid prenatal assay for pregnancies with high likelihood of normal karyotypes, using BACs‐on‐Beads™ technology, a suspension array‐based multiplex assay that employs Luminex®Expand
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TLDR
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TLDR
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  • Biology, Medicine
  • American journal of medical genetics. Part C, Seminars in medical genetics
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Some of the molecular cytogenetic techniques available to the clinical cytogenetics laboratory are presented, including fluorescence in situ hybridization (FISH), quantitative fluorescence PCR (QF‐PCR), multiplex ligation‐dependent probe amplification (MLPA) and microarray‐based comparative genomic Hybridization (array CGH). Expand
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