Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also ...Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also prevent tangential illness in fetuses and thus, reduce the incidence of diseases. Moreover, it is non-invasive prenatal gene diagnosis that prevents potential threaten and danger to both mothers and fetuses. Therefore, it is welcomed by clinical gynecologist and obstetrian, researchers of medical genetics, and especially, pregnancies. This review article touches briefly on the advanced development of using cell-free DNA, RNA in maternal plasma and urine for non-invasive prenatal gene diagnosis.展开更多
胎儿游离DNA(cell-free fetal DNA,cff-DNA)存在于孕妇妊娠期外周血中,其为携带胎儿相关遗传信息的DNA片段,可以进行胎儿染色体、基因相关疾病筛查。因其操作风险低、无副作用,目前已被广泛用于无创产前诊断检测(non-invasive prenatal ...胎儿游离DNA(cell-free fetal DNA,cff-DNA)存在于孕妇妊娠期外周血中,其为携带胎儿相关遗传信息的DNA片段,可以进行胎儿染色体、基因相关疾病筛查。因其操作风险低、无副作用,目前已被广泛用于无创产前诊断检测(non-invasive prenatal testing,NIPT)。无创cff-DNA血型检测是运用分子生物学检测cff-DNA血型相关基因,得出胎儿血型结果。以此在妊娠期即可检测出胎母血型是否一致,判断胎儿有无发生血型不合所致胎儿新生儿溶血病(hemolytic disease of the fetus and newborn,HDFN)的风险。展开更多
目的建立巢式PCR技术检测RhD阴性孕妇血浆中游离胎儿DNA(cffDNA)的RHD基因型,以预测胎儿RhD血型。方法采用QIAamp DNA Blood Mini Kit提取32例RhD阴性孕妇血浆游离DNA,针对RHD外显子7和10分别设计外侧、内侧2组特异性引物,巢式PCR方法...目的建立巢式PCR技术检测RhD阴性孕妇血浆中游离胎儿DNA(cffDNA)的RHD基因型,以预测胎儿RhD血型。方法采用QIAamp DNA Blood Mini Kit提取32例RhD阴性孕妇血浆游离DNA,针对RHD外显子7和10分别设计外侧、内侧2组特异性引物,巢式PCR方法检测孕妇血浆游离胎儿DNA的RHD型,测序验证PCR产物的序列特异性。结果孕妇血浆游离DNA经巢式PCR扩增后,有27例成功扩增出RHD外显子7、10特异性条带,5例未检测到RHD基因特异性扩增,32例中有30例胎儿RHD型与出生后血型相符,检测准确率为93.1%。结论采用巢式PCR技术检测RhD阴性孕妇血浆游离胎儿DNA来判定胎儿RHD型,具有良好的准确性、敏感性和特异性,为RhD新生儿溶血病的早期诊断提供了一种新的、可靠的检测手段。展开更多
文摘Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also prevent tangential illness in fetuses and thus, reduce the incidence of diseases. Moreover, it is non-invasive prenatal gene diagnosis that prevents potential threaten and danger to both mothers and fetuses. Therefore, it is welcomed by clinical gynecologist and obstetrian, researchers of medical genetics, and especially, pregnancies. This review article touches briefly on the advanced development of using cell-free DNA, RNA in maternal plasma and urine for non-invasive prenatal gene diagnosis.
文摘胎儿游离DNA(cell-free fetal DNA,cff-DNA)存在于孕妇妊娠期外周血中,其为携带胎儿相关遗传信息的DNA片段,可以进行胎儿染色体、基因相关疾病筛查。因其操作风险低、无副作用,目前已被广泛用于无创产前诊断检测(non-invasive prenatal testing,NIPT)。无创cff-DNA血型检测是运用分子生物学检测cff-DNA血型相关基因,得出胎儿血型结果。以此在妊娠期即可检测出胎母血型是否一致,判断胎儿有无发生血型不合所致胎儿新生儿溶血病(hemolytic disease of the fetus and newborn,HDFN)的风险。
文摘目的建立巢式PCR技术检测RhD阴性孕妇血浆中游离胎儿DNA(cffDNA)的RHD基因型,以预测胎儿RhD血型。方法采用QIAamp DNA Blood Mini Kit提取32例RhD阴性孕妇血浆游离DNA,针对RHD外显子7和10分别设计外侧、内侧2组特异性引物,巢式PCR方法检测孕妇血浆游离胎儿DNA的RHD型,测序验证PCR产物的序列特异性。结果孕妇血浆游离DNA经巢式PCR扩增后,有27例成功扩增出RHD外显子7、10特异性条带,5例未检测到RHD基因特异性扩增,32例中有30例胎儿RHD型与出生后血型相符,检测准确率为93.1%。结论采用巢式PCR技术检测RhD阴性孕妇血浆游离胎儿DNA来判定胎儿RHD型,具有良好的准确性、敏感性和特异性,为RhD新生儿溶血病的早期诊断提供了一种新的、可靠的检测手段。
