无创胎儿游离DNA血型检测在产前诊断中的研究进展  

Advances in Non-invasive Cell-free Fetal DNA Blood Group Testing in Prenatal Diagnosis

作　　者：任道菊 李小薇 李翠莹 REN Daoju;LI Xiaowei;LI Cuiying(Air Force Clinical College,the Fifth School of Clinical Medicine,Anhui Medical University,Hefei,232001;Department of Blood Transfusion,Air Force Medical Center,Air Force Medical University,Beijing,100142)

机构地区：[1]安徽医科大学第五临床医学院空军临床学院 [2]空军军医大学空军特色医学中心输血科,北京100142

出　　处：《临床输血与检验》2024年第6期835-842,共8页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：空军特色医学中心青年人才项目(No.2022YXQN028)资助。

摘　　要：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。Cell-free fetal DNA(cff-DNA)exists in the peripheral blood of pregnant women during gestation,and it carries DNA fragments with relevant genetic information of the fetus,which can be screened for fetal chromosomal and gene-related diseases.It is now widely used in non-invasive prenatal testing(NIPT)because of its low operational risk and lack of side effects.Non-invasive cff-DNA blood group testing uses molecular technology to detect the genes associated with cff-DNA blood grouping,resulting in a fetal blood group.The test can be used to detect the consistency of fetal and maternal blood groups during pregnancy and to determine the risk of hemolytic disease of the fetus and newborn(HDFN)due to blood group incompatibility.

关 键 词：胎儿游离DNA 胎儿血型 无创产前检测 

分 类 号：R457[医药卫生—治疗学]