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首页> 外文期刊>Journal of genetics >Cytogenetic microarray in structurally normal and abnormal foetuses: a fiveyears experience elucidating increasing acceptance and clinical utility
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Cytogenetic microarray in structurally normal and abnormal foetuses: a fiveyears experience elucidating increasing acceptance and clinical utility

机译:在结构正常和异常胎儿中的细胞遗传学微阵列:阐明促进接受和临床效用的五年级体验

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摘要

The aim of the present study was to evaluate the diagnostic yield of prenatal cytogenetic microarray (CMA) in structurally normal and abnormal foetuses and record the acceptance rate of CMA for prenatal diagnosis over a course of fiveyears. In 128 structurally normal and abnormal foetuses, CMA was performed along with foetal karyotype, after exclusion of aneuploidy by quantitative fluorescence polymerase chain reaction. The microarray was able to detect the pathogenic variants in 5.5% cases; the diagnostic yield in structurally abnormal foetuses was 8.8% and 4.7% in foetuses with a high aneuploidy risk. Balanced and unbalanced translocations, and low level mosaicism were detected. Reanalysis of variants of uncertain significance identified pathogenic variant. The study shows higher diagnostic yield in structurally abnormal cases, the importance of foetal karyotype and reanalysis in microarray. The acceptance rate of prenatal CMA increased five-fold over a period of fiveyears.
机译:本研究的目的是评估产前细胞遗传学微阵列(CMA)在结构正常和异常胎儿中的诊断产量,并记录CMA在五年级诊断中CMA进行产前诊断的验收率。 在128中,在通过定量荧光聚合酶链反应排除非整倍性之后,CMA与胎儿核型一起进行。 微阵列能够检测5.5%病例的病原变体; 在结构异常胎儿的诊断产量为胎儿的胎儿为8.8%和4.7%,具有高通量倍性风险。 检测到平衡和不平衡的易位和低级马赛克。 不确定意义鉴定的致病变异变异的再分析。 该研究表明,在结构异常情况下表现出更高的诊断产量,胎儿核型和微阵列中的重新分析的重要性。 产前CMA的验收率在五年龄的时间内增加了五折。

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