| Autor: |
Choy, Kw, Kwok, Yk, Cheng, Yky, Wong, Km, Wong, Hk, Leung, Ko, Suen, Kw, Adler, K, Wang, Cc, Lau, Tk, Schermer, Mj, Lao, Tt, Leung, Ty, Choy, K W, Kwok, Y K, Cheng, Y K Y, Wong, K M, Wong, H K, Leung, K O, Suen, K W |
| Zdroj: |
BJOG: An International Journal of Obstetrics & Gynaecology; Sep2014, Vol. 121 Issue 10, p1245-1252, 8p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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