无创产前诊断RhD阴性孕妇胎儿RhD基因型敏感度和特异度的荟萃分析

Sensitivity and specificity of noninvasive prenatal fetal RhD genotesting： a meta-analysis

目的 探讨无创产前诊断对RhD阴性孕妇胎儿RhD基因型诊断的敏感度和特异度及该方法在临床上施行的可行性.方法 检索PubMed、Embase、Web of Science数据库中的文献,按照诊断试验的纳入和排除标准筛选文献,提取纳入文献的特征信息.应用MetaDisc1.4软件对符合条件的研究结果进行荟萃分析.结果 共纳入55篇文献,胎儿17 138例,研究间具有异质性,采用随机效应模型,汇总敏感度、特异度和ROC曲线下的面积分别为98.5％、97.3％和0.994.对纳入的文献进行亚组分析和敏感度分析.样本量＜100的25篇文献敏感度（94.6％）低于样本量100～300的19篇文献（98.5％）和样本量＞ 100的11篇文献（99.0％）,差异有统计学意义（x2=36.800、106.062,P＜0.05）,样本量100～ 300的研究组和样本量＞300的研究组敏感度（98.5％、99.0％）差异无统计学意义（x2 =3.068,P＞0.05）.结论 无创产前诊断胎儿RhD基因型的敏感度和特异度较高,可用于Rh阴性孕妇胎儿的Rh基因型的产前诊断,预防新生儿溶血症的发生.

Objective To explore the sensitivity,specificity and clinical validity of fetal Rh genotyping from maternal blood.Methods A comprehensive literature search of PubMed,Embase and Web of Science was performed for describing fetal RhD determination from maternal blood.The inclusion criteria were established based on the validity criteria for diagnostic research.And the eligible entries were collected and analyzed with MetaDisc4.0.Results This meta-analysis included 55 studies with a total of 17 138 samples.The random-effect model was used for analysis because of heterogeneity.The pooled sensitivity and specificity were 98.5％ and 97.3％ respectively.The SROC curve was plotted and the area under the curve （AUC） calculated （AUC =0.994）.The subgroup and sensitivity analyses were performed.The sensitivity of 25 studies with samples ＜ 100 （94.6％） was significantly lower than those of 19 studies with samples 100-300 （98.5％） and 11 studies with samples ＞300 （99.0％） （x2 =36.800,106.062,P＜0.05）.The sensitivity of 19 studies with samples 100-300 （98.5％） was not different from that of 11 studies with samples ＞ 300 （99.0％） （x2 =3.068,P ＞ 0.05）.Conclusions Noninvasive prenatal diagnosis of fetal RhD status from maternal blood represents a significant achievement in the application of research with high sensitivity and specificity.It may be applied for screening testing of all RhD-negative pregnant women.