METHODS: A comprehensive literature search was conducted up to October 31, 2022, in PubMed, Embase, Cochrane Library, Web of Science, and Scopus Database. To evaluate the diagnostic value, the sensitivity (SEN), specificity (SPE), positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), area under the curve (AUC), and Q∗ index were pooled. Threshold effect followed by subgroup analysis and meta-regression were performed to explore the source of heterogeneity. Sensitivity analysis was used to verify the robustness of the findings.
RESULTS: A total seven studies with 248,853 newborns was included in our meta-analysis. The pooled SEN and SPE were 1.00 (95% confidence interval [CI]: 0.89∼1.00) and 1.00 (95% CI: 1.00 to 1.00), respectively; the PLR and NLR were 1004.59 (95% CI: 251.37∼4014.91) and 0.13 (95% CI: 0.05∼0.34), respectively; the DOR was 877.96 (95% CI: 983.24∼78,366.32); the AUC and Q index were 0.8683 and 0.9326, respectively. Sensitivity analysis showed that two studies had an impact on the pooled results and mainly contributed to the heterogeneity.
CONCLUSIONS: CK-MM test demonstrated high accuracy in newborn screening for DMD and may be a valuable alternative in the early diagnosis of the disease followed by confirmatory genetic testing.
方法:截至2022年10月31日,在PubMed进行了全面的文献检索,Embase,科克伦图书馆,WebofScience,和Scopus数据库。为了评估诊断价值,灵敏度(SEN),特异性(SPE),正似然比(PLR),负似然比(NLR),诊断优势比(DOR),曲线下面积(AUC),和Q*指数进行了汇总。进行阈值效应,然后进行亚组分析和荟萃回归以探索异质性的来源。敏感性分析用于验证研究结果的稳健性。
结果:我们的荟萃分析中包含了总共7项研究,涉及248,853名新生儿。合并的SEN和SPE分别为1.00(95%置信区间[CI]:0.89~1.00)和1.00(95%CI:1.00至1.00),PLR和NLR分别为1004.59(95%CI:251.37~4014.91)和0.13(95%CI:0.05~0.34),DOR分别为877.96(95%CI:983.24~78,366.32);AUC和Q指数分别为0.8683和0.9326。敏感性分析表明,两项研究对合并结果有影响,主要是造成异质性的原因。
结论:CK-MM测试在DMD的新生儿筛查中显示出很高的准确性,并且在疾病的早期诊断以及验证性基因测试中可能是一种有价值的替代方法。