母血中单个胎儿有核红细胞基因分析诊断巨细胞病毒宫内感染

Prenatal diagnosis of human cytomegalovirus intrauterine infection by gene analyzing of single fetal nucleated erythroblasts in maternal blood.

目的:探讨利用母血中单个胎儿有核红细胞的基因分析产前诊断巨细胞病毒(HCMV)宫内感染的科学性和可行性。方法:从273例母体血标本中分离出单个胎儿有核红细胞,用引物延伸预扩增方法对其基因组预扩增,再用PCR方法检测HCMV-DNA。结果:41例证实为HCMV-DNA阳性标本中该产前诊断方法检测出39例,该方法对232例HCMV-DNA阴性标本诊断均为阴性。该方法的敏感性为95.12％,特异性为100％,符合率为99.27％。结论:该无创性产前诊断方法具有较好的科学性和可行性,是适合临床应用的较好方法。

Objective: To discuss the scientifity and feasibility of prenatal diagnosis of human cytomegalovirus infection by analysis of single fetal nucleated red blood cells in maternal blood. Methods:Primer extension preamplification method was applied to preamplify the genome and PCR method was used to detect HCMV-DNA after single fetal nucleated red blood cells were isolated from 273 maternal blood samples.Results:39 out of 41 HCMV-DNA positive samples were identified positive and all of the 232 HCMV-DNA negative samples were negative by this method. It showed that the sensitivity and specificity of the new method were 95.12% and 100% .The concordance rate of the new method was 99.27%. Conclusions:The new method of noninvasive prenatal diagnosis is highly scientific and feasible. It is suitable for clinical use.