Choy K W, Kwok Y K, Cheng Y K Y, 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
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.
BJOG. 2014 Sep;121(10):1245-52. doi: 10.1111/1471-0528.12873. Epub 2014 Jun 3.
To evaluate the diagnostic performance of the BACs-on-Beads(™) (BoBs(™)) assay for prenatal detection of chromosomal abnormalities.
Retrospective study.
Tertiary prenatal diagnosis centre.
Women referred for prenatal diagnosis.
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.
Concordance of any numerical, structural, and submicroscopic chromosomal abnormalities between the methods.
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%).
BACs-on-Beads(™) can replace QF-PCR for triaging in prenatal diagnosis, and gives a better diagnostic yield than current rapid aneuploidy tests.
评估用于产前检测染色体异常的珠子上的BACs（™）（BoBs（™））检测法的诊断性能。
回顾性研究。
三级产前诊断中心。
被转诊进行产前诊断的女性。
我们检索了2010年1月至2011年8月间收集的2153份存档DNA样本用于BoBs（™）检测法。这些样本先前已通过定量荧光聚合酶链反应（QF-PCR）和核型分析进行过检测。在BoBs（™）检测法中，当染色体位点处荧光强度的比值处于阈值范围内（平均比值±2SD）时，样本被定义为正常二体；当比值分别低于下限阈值（0.6 - 0.8）或高于上限阈值（1.3 - 1.4）时，样本被定义为缺失或重复。BoBs（™）检测结果通过微阵列进一步验证，并与原始的QF-PCR和核型分析结果进行盲法比较。
各方法之间在任何数目、结构和亚微观染色体异常方面的一致性。
珠子上的BACs（™）在检测13三体、18三体、21三体和性染色体非整倍体方面与核型分析和QF-PCR相似，在检测涉及常见非整倍体以外的染色体异常的主要结构异常（53.3%对13.3%）和嵌合体（28.6%对0%）方面优于QF-PCR。BoBs（™）检测到了核型分析和QF-PCR遗漏的6种微缺失综合征；然而，BoBs（™）遗漏了QF-PCR鉴定出的2例三倍体病例。因此，BoBs（™）的敏感性为96.7%（95%可信区间92.6 - 98.7%），特异性为100%（95%可信区间99.8 - 100%）。
珠子上的BACs（™）可在产前诊断中替代QF-PCR进行分流，并且比当前的快速非整倍体检测具有更高的诊断效率。
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