Rh阴性孕妇外周血基因鉴定胎儿RhD血型的方法  

Non-invasive fetal RhD genotyping from maternal plasma in RhD-negative pregnancies

作　　者：邓小燕[1] 林晓燕[2] 冯桂玲[1] 曾小琪[1] 

机构地区：[1]广州医学院第二附属医院检验科,广东广州510260 [2]广东省汕头市澄海区人民医院检验科,广东汕头515800

出　　处：《热带医学杂志》2011年第2期178-180,共3页Journal of Tropical Medicine

基　　金：广州市教育局科技社科项目(08A067);广东省医学科学技术研究项目(A2010258)

摘　　要：目的建立可靠有效的检测孕妇外周血中胎儿游离DNA的方法,探讨其在非创伤性产前诊断中的价值。结论采用PCR技术对5例RhD阴性孕妇外周血血浆DNA进行分析,然后对出生后婴儿脐带血进行Rh血清学表型分析,回顾性评价无创性预测胎儿RhD基因分析的准确性。结果 5例RhD阴性血浆标本扩增出180bp与156bp两条特异性片段,产后新生儿脐血血清学检测结果为RhD阳性,与PCR检测结果完全吻合。结论孕妇外周血浆中胎儿游离DNA的测定能实现对胎儿RhD基因型的预测判定。孕妇外周血检测胎儿DNA可应用于非创伤性产前诊断。Objective To establish a reliable and effective method for detecting fetal DNA in maternal plasma DNA and to explore its value in non-invasive prenatal diagnosis...Methods DNA of 5 RhD negative samples were firstly analyzed by polymerase chain reaction. Further analysis was given to the Rh serological phenotype of the postnatal umbilical cord blood, and then to estimate the accuracy of fetal RhD gene analysis with noninvasive prediction in retrospect...Results Fragments of 180bp and 156bp were detected in analyzing the RhD gene by PCR in 5 RhD negative women. From serologic analysis of cord blood, all 5 fetus were RhD positive and matched with the PCR result...Conclusion The method of using fetal DNA in RhD-negative maternal plasma for noninvasive prenatal diagnosis of fetal RhD blood type is a non-invasive way for prenatal gene diagnosis.

关 键 词：胎儿DNA 无创性产前诊断 RhD基因型 RHD血型 

分 类 号：R722.8[医药卫生—儿科]