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

  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},
  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. 
BACs-on-Beads™ assay for a case of trisomy 22 confined placental mosaicism
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
The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBsTM under different prenatal indications. Expand
Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions
The BACs‐on‐BeadsTM (BoBs™) assay is a reliable and rapid test for detecting common aneuploidies and microdeletions for prenatal diagnosis, and could be used instead of karyotyping for detection of commonAneuploids as well as to provide additional information regarding micro deletions. Expand
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
BACs-on-Beads assay can be used for the rapid and efficient prenatal diagnosis of common aneuploidies and microdeletion/microduplication syndromes and the combined use of BoBs assay and karyotypes in prenatal diagnosis may allow for a more effective detection of chromosomal abnormalities. Expand
Utility and performance of bacterial artificial chromosomes‐on‐beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples
This study validated and evaluated the utility of each test on prenatal, POC and blood samples and found that the bacterial artificial chromosomes (BAC)s‐on‐Beads (BoBs)‐based tests, Prenatal BoBs (prenatal samples) and KaryoLite BoB (POC samples) are reliable and effective tests. Expand
Evaluation of interpretation methods to improve accuracy of the prenatal BACs-on-Beads™ assay in prenatal diagnosis
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
Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells
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
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
Noninvasive prenatal testing: the aspects of its introduction into clinical practice
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
Developing non-invasive prenatal testing (NIPT) is a key area of research and methods to increase the level of cell-free fetal DNA (cffDNA) within the maternal circulation have been discussed to improve accuracy of such testing. Expand


The detection of mosaicism by prenatal BoBs™
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
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
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
Secondary findings from non‐invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
To report secondary or additional findings arising from introduction of non‐invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical service.
Multiplex ligation‐dependent probe amplification (MLPA) in prenatal diagnosis—experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y
Multiplex ligation‐dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to beExpand
Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis
Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis and the implications for clinical practice are investigated. Expand
Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes
To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectivelyExpand
Prenatal BACs‐on‐BeadsTM: the prospective experience of five prenatal diagnosis laboratories
This bead‐based multiplex assay detects chromosome 13, 18, 21 and X/Y aneuploidies and the nine most frequent microdeletion syndromes and demonstrates that Prenatal BACs‐on‐BeadsTM is a new‐generation, prenatal screening tool. Expand
Prenatal BACs‐on‐Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis
The validation study of the prenatal bacterial artificial chromosomes‐on‐Beads™ (BoBs™; CE‐IVD), a bead‐based multiplex assay detecting chromosomes 13, 18, 21, X/Y aneuploidies and nine microdeletion regions having an overall detection rate of 1/1700 is reported. Expand
Rapid Prenatal Diagnosis by QF‐PCR: Evaluation of 30,000 Consecutive Clinical Samples and Future Applications
The results of using QF‐PCR in a large series of consecutive clinical cases are reported and the possibility that, in a near future, it may even replace conventional cytogenetic analyses on selected samples is discussed. Expand
Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis
  • L. Shaffer, T. Bui
  • Biology, Medicine
  • American journal of medical genetics. Part C, Seminars in medical genetics
  • 2007
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