Sagoo Gurdeep S, Butterworth Adam S, Sanderson Simon, Shaw-Smith Charles, Higgins Julian P T, Burton Hilary
MRC Biostatistics Unit, University of Cambridge, Cambridge, United Kingdom.
Genet Med. 2009 Mar;11(3):139-46. doi: 10.1097/GIM.0b013e318194ee8f.
Array-based comparative genomic hybridization is being increasingly used in patients with learning disability (mental retardation) and congenital anomalies. In this article, we update our previous meta-analysis evaluating the diagnostic and false-positive yields of this technology. An updated systematic review and meta-analysis was conducted investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic analyses have proven negative. Nineteen studies (13,926 patients) were included of which 12 studies (13,464 patients) were published since our previous analysis. The overall diagnostic yield of causal abnormalities was 10% (95% confidence interval: 8-12%). The overall number needed to test to identify an extra causal abnormality was 10 (95% confidence interval: 8-13). The overall false-positive yield of noncausal abnormalities was 7% (95% confidence interval: 5-10%). This updated meta-analysis provides new evidence to support the use of array-based comparative genomic hybridization in investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic tests have proven negative. However, given that this technology also identifies false positives at a similar rate to causal variants, caution in clinical practice should be advised.
基于阵列的比较基因组杂交技术越来越多地应用于学习障碍（智力迟钝）和先天性异常患者。在本文中，我们更新了之前的荟萃分析，评估该技术的诊断率和假阳性率。我们进行了一项更新的系统评价和荟萃分析，研究常规细胞遗传学分析结果为阴性的学习障碍和先天性异常患者。纳入了19项研究（13926例患者），其中12项研究（13464例患者）是在我们之前的分析之后发表的。因果异常的总体诊断率为10%（95%置信区间：8%-12%）。识别一例额外因果异常所需检测的总体例数为10例（95%置信区间：8-13例）。非因果异常的总体假阳性率为7%（95%置信区间：5%-10%）。这项更新的荟萃分析提供了新的证据，支持在常规细胞遗传学检测结果为阴性的学习障碍和先天性异常患者的调查中使用基于阵列的比较基因组杂交技术。然而，鉴于该技术识别假阳性的比率与因果变异相似，临床实践中应谨慎使用。
