胎儿脐带血检测在α-珠蛋白生成障碍贫血产前诊断中的价值

Analysis of fetal cord blood in prenatal diagnosis of alpha thalassemia

目的探讨胎儿脐带血血液学指标在α-珠蛋白生成障碍贫血产前诊断中的价值。方法对2099例孕晚期脐血进行血液学和α-珠蛋白基因分析,用ROC曲线分析MCH、HBG、HCT、MCV和RBC的最佳诊断阈值(cutoff值),评价其在重型α-珠蛋白生成障碍贫血诊断中的价值。结果 MCH、HBG、HCT、MCV和RBC的ROC曲线下面积依次为1、0.997、0.895、0.853和0.686,最佳cutoff值分别为26.9pg、100.5g/L、34.5%、111.8fL和2.83×1012/L,灵敏度分别为100%、100%、71%、85.5%、75.4%;特异性分别为100%、96.8%、90%、80.6%、53.2%。结论以ROC曲线分析得到的MCH、HBG最佳cutoff值对重型α-珠蛋白生成障碍贫血具有较好的诊断价值,MCH价值最大,无误诊及漏诊。

Objective To evaluate the clinical application of cord blood hemocytometric indices in prenatal diagnosis for alpha thalassemia.Methods Hematology and alpha-globin gene analysis were carried out among 2 099cases of third trimester umbilical cord blood.Optima cutoff values of MCH,HBG,HCT,MCV and RBC were analyzed by ROC curve in screening of alpha-thalassaemia major.Results The area under ROC curve of MCH,HBG,HCT,MCV and RBC in order was 1,0.997,0.895,0.853and 0.686,and the optimal cutoff values were 26.9pg,100.5g/L,34.5%,111.8fL and 2.83×1012/L respectively.The sensitivity of them were 100%,100%,71%,85.5%and 75.4%,and the specificity of each were 100%,96.8%,90%,80.6%and 53.2%respectively.Conclusion The optimal cutoff values of MCH and HBG might have value of diagnostic application for screening alphathalassaemia major,and MCH could be the best which has no misdiagnosis or missed diagnosis.