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Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series.
BJOG. 2014 Sep; 121(10):1245-52.BJOG

Abstract

OBJECTIVE

To evaluate the diagnostic performance of the BACs-on-Beads(™) (BoBs(™)) assay for prenatal detection of chromosomal abnormalities.

DESIGN

Retrospective study.

SETTING

Tertiary prenatal diagnosis centre.

POPULATION

Women referred for prenatal diagnosis.

METHODS

We retrieved 2153 archived DNA samples collected between January 2010 and August 2011 for the BoBs(™) assay. These samples had previously been tested by quantitative fluorescence polymerase chain reaction (QF-PCR) and karyotyping. In the BoBs(™) assay a sample was defined as normal disomic when the ratio of the fluorescence intensities in a chromosome locus lay within the threshold (mean ratio ± 2SD), and as deleted or duplicated when the ratio was below the lower threshold (0.6-0.8) or above the upper threshold (1.3-1.4), respectively. The BoBs(™) results were further validated by microarray and compared in a blinded manner with the original QF-PCR and karyotyping results.

MAIN OUTCOME MEASURES

Concordance of any numerical, structural, and submicroscopic chromosomal abnormalities between the methods.

RESULTS

BACs-on-Beads(™) was similar to karyotyping and QF-PCR in detecting trisomy 13, trisomy 18, trisomy 21, and sex chromosomal aneuploidies, and superior to QF-PCR in detecting major structural abnormalities (53.3 versus 13.3%) and mosaicism (28.6 versus 0%) involving chromosomal abnormalities other than the common aneuploidies. BoBs(™) detected six microdeletion syndromes missed by karyotyping and QF-PCR; however, BoBs(™) missed two cases of triploidy identified by QF-PCR. Therefore, the sensitivity of BoBs(™) is 96.7% (95% CI 92.6-98.7%), and its specificity is 100% (95% CI 99.8-100%).

CONCLUSIONS

BACs-on-Beads(™) can replace QF-PCR for triaging in prenatal diagnosis, and gives a better diagnostic yield than current rapid aneuploidy tests.

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Authors+Show Affiliations

Choy KW
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China; Shenzhen Research Institute, The Chinese University of Hong Kong, Hong Kong, China; School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Kwok YK
No affiliation info available
Cheng YK
No affiliation info available
Wong KM
No affiliation info available
Wong HK
No affiliation info available
Leung KO
No affiliation info available
Suen KW
No affiliation info available
Adler K
No affiliation info available
Wang CC
No affiliation info available
Lau TK
No affiliation info available
Schermer MJ
No affiliation info available
Lao TT
No affiliation info available
Leung TY
No affiliation info available

MeSH

AneuploidyChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 13Chromosomes, Human, Pair 18Down SyndromeFemaleHumansKaryotypingPolymerase Chain ReactionPregnancyPrenatal DiagnosisReproducibility of ResultsRetrospective StudiesSensitivity and SpecificitySex Chromosome AberrationsTrisomyTrisomy 13 SyndromeTrisomy 18 Syndrome

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24893808

Citation

Choy, K W., et al. "Diagnostic Accuracy of the BACs-on-Beads™ Assay Versus Karyotyping for Prenatal Detection of Chromosomal Abnormalities: a Retrospective Consecutive Case Series." BJOG : an International Journal of Obstetrics and Gynaecology, vol. 121, no. 10, 2014, pp. 1245-52.
Choy KW, Kwok YK, Cheng YK, et al. Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series. BJOG. 2014;121(10):1245-52.
Choy, K. W., Kwok, Y. K., Cheng, Y. K., Wong, K. M., Wong, H. K., Leung, K. O., Suen, K. W., Adler, K., Wang, C. C., Lau, T. K., Schermer, M. J., Lao, T. T., & Leung, T. Y. (2014). Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series. BJOG : an International Journal of Obstetrics and Gynaecology, 121(10), 1245-52. https://doi.org/10.1111/1471-0528.12873
Choy KW, et al. Diagnostic Accuracy of the BACs-on-Beads™ Assay Versus Karyotyping for Prenatal Detection of Chromosomal Abnormalities: a Retrospective Consecutive Case Series. BJOG. 2014;121(10):1245-52. PubMed PMID: 24893808.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series. AU - Choy,K W, AU - Kwok,Y K, AU - Cheng,Y K Y, AU - Wong,K M, AU - Wong,H K, AU - Leung,K O, AU - Suen,K W, AU - Adler,K, AU - Wang,C C, AU - Lau,T K, AU - Schermer,M J, AU - Lao,T T, AU - Leung,T Y, Y1 - 2014/06/03/ PY - 2014/03/04/accepted PY - 2014/6/5/entrez PY - 2014/6/5/pubmed PY - 2015/2/24/medline KW - BoBs™ KW - QF-PCR KW - karyotyping KW - microdeletion SP - 1245 EP - 52 JF - BJOG : an international journal of obstetrics and gynaecology JO - BJOG VL - 121 IS - 10 N2 - OBJECTIVE: To evaluate the diagnostic performance of the BACs-on-Beads(™) (BoBs(™)) assay for prenatal detection of chromosomal abnormalities. DESIGN: Retrospective study. SETTING: Tertiary prenatal diagnosis centre. POPULATION: Women referred for prenatal diagnosis. METHODS: We retrieved 2153 archived DNA samples collected between January 2010 and August 2011 for the BoBs(™) assay. These samples had previously been tested by quantitative fluorescence polymerase chain reaction (QF-PCR) and karyotyping. In the BoBs(™) assay a sample was defined as normal disomic when the ratio of the fluorescence intensities in a chromosome locus lay within the threshold (mean ratio ± 2SD), and as deleted or duplicated when the ratio was below the lower threshold (0.6-0.8) or above the upper threshold (1.3-1.4), respectively. The BoBs(™) results were further validated by microarray and compared in a blinded manner with the original QF-PCR and karyotyping results. MAIN OUTCOME MEASURES: Concordance of any numerical, structural, and submicroscopic chromosomal abnormalities between the methods. RESULTS: BACs-on-Beads(™) was similar to karyotyping and QF-PCR in detecting trisomy 13, trisomy 18, trisomy 21, and sex chromosomal aneuploidies, and superior to QF-PCR in detecting major structural abnormalities (53.3 versus 13.3%) and mosaicism (28.6 versus 0%) involving chromosomal abnormalities other than the common aneuploidies. BoBs(™) detected six microdeletion syndromes missed by karyotyping and QF-PCR; however, BoBs(™) missed two cases of triploidy identified by QF-PCR. Therefore, the sensitivity of BoBs(™) is 96.7% (95% CI 92.6-98.7%), and its specificity is 100% (95% CI 99.8-100%). CONCLUSIONS: BACs-on-Beads(™) can replace QF-PCR for triaging in prenatal diagnosis, and gives a better diagnostic yield than current rapid aneuploidy tests. SN - 1471-0528 UR - https://www.unboundmedicine.com/medline/citation/24893808/Diagnostic_accuracy_of_the_BACs_on_Beads™_assay_versus_karyotyping_for_prenatal_detection_of_chromosomal_abnormalities:_a_retrospective_consecutive_case_series_ L2 - https://doi.org/10.1111/1471-0528.12873 DB - PRIME DP - Unbound Medicine ER -