Department of Obstetrics and Gynecology, School of Medicine, University of Valle, Cali, Colombia; Department of Morphology, School of Medicine, University of Valle, Cali, Colombia.
Department of Urology, School of Medicine, University of Valle, Cali, Colombia.
Am J Obstet Gynecol. 2015 Mar;212(3):330.e1-10. doi: 10.1016/j.ajog.2014.10.011. Epub 2014 Oct 18.
The aim of this study was to determine the diagnostic accuracy of comparative genomic hybridization (CGH) compared with karyotyping for the detection of numerical and structural chromosomal alterations in prenatal diagnosis.
A metaanalysis was performed using searches of PubMed, EMBASE, CENTRAL, Cochrane Register of Diagnostic Test Accuracy Studies, Google Scholar, gray literature, and reference manuals. No language restriction was imposed. We included cross-sectional, cohort, and case-control studies published from January 1980 through March 2014 in the analysis. Studies of pregnant women who received chorionic villus biopsies, amniocentesis, or cordocentesis and then underwent CGH and karyotype analysis were included. Two independent reviewers assessed each study by title, abstract, and full text before its inclusion in the analysis. Methodological quality was assessed using QUADAS2, and a third reviewer resolved any disagreement. Conclusions were obtained through tests (sensitivity, specificity, and likelihood ratios) for the presence of numerical and structural chromosomal abnormalities. The reference used for these calculations was the presence of any abnormalities in either of the 2 tests (karyotype or CGH), although it should be noted that in most cases, the karyotyping test had a lower yield compared with CGH. Statistical analysis was performed in RevMan 5.2 and the OpenMeta[Analyst] program.
In all, 137 articles were found, and 6 were selected for inclusion in the systematic review. Five were included in the metaanalysis. According to the QUADAS2 analysis of methodology quality, there is an unclear risk for selection bias and reference and standard tests. In the other elements (flow, time, and applicability conditions), a low risk of bias was found. CGH findings were as follows: sensitivity 0.939 (95% confidence interval [CI], 0.838-0.979), I(2) = 82%; specificity 0.999 (95% CI, 0.998-1.000), I(2) = 0%; negative likelihood ratio 0.050 (95% CI, 0.015-0.173), I(2) = 0%; and positive likelihood ratio 1346.123 (95% CI, 389-4649), I(2) = 0%. Karyotype findings were as follows: sensitivity 0.626 (95% CI, 0.408-0.802), I(2) = 93%; specificity 0.999 (95% CI, 0.998-1.000), I(2) = 0%; negative likelihood ratio 0.351 (95% CI, 0.101-1.220), I(2) = 0%; and positive likelihood ratio 841 (95% CI, 226-3128), I(2) = 10%.
This systematic review provides evidence of the relative advantage of using CGH in the prenatal diagnosis of chromosomal and structural abnormalities over karyotyping, demonstrating significantly higher sensitivity with similar specificity.
本研究旨在确定比较基因组杂交 (CGH) 与核型分析在产前诊断中检测染色体数目和结构异常的诊断准确性。
使用 PubMed、EMBASE、CENTRAL、Cochrane 诊断测试准确性登记册、Google Scholar、灰色文献和参考手册进行荟萃分析。未施加语言限制。我们纳入了 1980 年 1 月至 2014 年 3 月发表的横断面、队列和病例对照研究。纳入了接受绒毛活检、羊膜穿刺术或脐带穿刺术，然后进行 CGH 和核型分析的孕妇研究。两名独立的评审员在纳入分析之前，根据标题、摘要和全文评估了每一项研究。使用 QUADAS2 评估方法学质量，由第三名评审员解决任何分歧。通过对存在的数值和结构染色体异常的检测（敏感性、特异性和似然比）得出结论。这些计算的参考值是两种检测方法（核型或 CGH）中任何一种存在异常，尽管应该注意的是，在大多数情况下，核型检测的检出率低于 CGH。使用 RevMan 5.2 和 OpenMeta[Analyst] 程序进行统计分析。
共发现 137 篇文章，其中 6 篇被选入系统评价。有 5 篇被纳入荟萃分析。根据 QUADAS2 对方法学质量的分析，存在选择偏倚和参考标准测试的不明确风险。在其他元素（流程、时间和适用性条件）中，发现偏倚风险较低。CGH 结果如下：敏感性 0.939（95%置信区间[CI]，0.838-0.979），I²=82%；特异性 0.999（95% CI，0.998-1.000），I²=0%；阴性似然比 0.050（95% CI，0.015-0.173），I²=0%；阳性似然比 1346.123（95% CI，389-4649），I²=0%。核型结果如下：敏感性 0.626（95% CI，0.408-0.802），I²=93%；特异性 0.999（95% CI，0.998-1.000），I²=0%；阴性似然比 0.351（95% CI，0.101-1.220），I²=0%；阳性似然比 841（95% CI，226-3128），I²=10%。
本系统评价提供了 CGH 在产前诊断染色体和结构异常方面优于核型分析的相对优势的证据，显示出明显更高的敏感性，同时特异性相似。
