从孕妇血浆中提取胎儿DNA鉴定胎儿RhCcEe血型

目的探讨利用孕妇血浆中游离胎儿DNA进行非创伤性产前诊断胎儿RhCcEe血型的方法。方法采用QIAamp DNA Kit抽提孕妇血浆DNA，利用SRY基因确认胎儿DNA的存在，通过PCR方法扩增30例孕妇血浆中胎儿DNA以检测胎儿RhCcEe基因，并对产前孕妇外周血和产后婴儿外周血进行RhCcEe血清学表型分析，回顾性评价胎儿基因分型结果的准确性。结果30例样本中，13例母子表型完全相同，17例存在区别。当母亲表型为RhCC、cc、EE、ee纯合子时，均成功扩增出母亲所缺少的c、C、e、E基因。结论本研究建立的非创伤性产前诊断胎儿RhCcEe基因型的方法是可行的，当母亲为纯合子时，血浆中胎儿RhCcEe基因分型具有临床意义，可用于新生儿溶血病的预防和诊断。

Detection of fetal RhCcEe genotype in maternal plasma

Objective To detect fetal RhCcEe genotype from fetal DNA in maternal plasma for noninvasive prenatal diagnosis.Methods DNA from maternal plasma sample was extracted by use of QIAamp DNA Kit. The existence of fetal DNA was confirmed by amplified fetal SRY gene. The fetal RhCcEe gene was amplified by polymerase chain reaction (PCR) from 30 pregnant maternal plasma. The results of fetal RhCcEe genotype were evaluated retrospectively by the serologic analysis of infant and pregnant woman RhCcEe phenotype.Results Among the 30 samples, 13 were the same phenotypes between mother and infant, 17 were different. When mother phenotypes were RhCC, cc, EE and ee homozygous, the deleted allele gene can be successfully amplified from mother plasma.Conclusion Noninvasive fetal RhCcEe genotyping is reliable. When the mother was homogyzous, genotyping the fetal CcEe alleles was very significant and useful for HDN (hemolysis disease of newborn) diagnosis and therapy.