亚洲RhD阴性血型孕妇胎儿RHD基因型检测研究进展  

Research progress on fetal RHD genotype screening in RhD-negative pregnant women in Asia

作　　者：姜子晗 李洁[1] 段红蕾[2] Jiang Zihan;Li Jie;Duan Honglei(Department of Obstetrics and Gynecology,Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University,Nanjing 210008,China;Department of Obstetrics and Gynecology,Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京医科大学鼓楼临床医学院妇产科,210008 [2]南京大学医学院附属鼓楼医院妇产科,210008

出　　处：《中华围产医学杂志》2021年第10期793-797,共5页Chinese Journal of Perinatal Medicine

基　　金：江苏省妇幼健康重点学科(FXK201747);鼓楼医院新技术发展基金(XJSFZJJ202022)。

摘　　要：RhD阴性血型孕妇孕育RhD阳性血型胎儿时,有发生胎儿或新生儿溶血性疾病的风险,严重者可导致胎死宫内或新生儿死亡,孕期使用抗D免疫球蛋白,可以降低其发生风险;RhD阴性血型孕妇孕育RhD阴性血型胎儿时,则无类似情况。近年来,随着遗传研究手段的不断涌现,对RhD阴性血型孕妇进行胎儿RHD基因型筛查,选择性使用抗D免疫球蛋白,对RhD阴性血型孕妇的围产期管理具有重要意义。部分欧美国家已常规开展胎儿RHD基因型无创产前筛查,但RhD阴性亚洲人中RHD基因除了有完全缺失和部分缺失型,还有点突变等存在形式,这导致针对高加索人群的筛查技术不完全适用于亚洲人群,需建立针对亚洲人群的无创胎儿RHD基因型检测方法。本文就亚洲RhD阴性血型孕妇基因型特点、胎儿基因型筛查的意义以及检测技术的研究进展进行综述。RhD-negative pregnant women with an RhD-positive fetus are at risk of hemolytic disease of the fetus and newborn(HDFN),which may lead to fetal/neonatal death.While these would not affect those RhD-negative fetuses.With the advancement of technology in genetics,the administration of anti-D immunoglobulin to women with an RhD-positive fetus could reduce the risk of HDFN.Therefore,non-invasive prenatal testing on fetal RHD genotype plays an important role in the management of RhD-negative pregnant women.Selective usage of anti-D immunoglobulin is important in perinatal management in these women.The non-invasive prenatal screening for fetal RHD gene which has been carried out in Caucasian is not applicable to Asians because of the difference in RHD genotype.In addition to complete or partial RHD gene deletion,point mutations are also common RHD genotypes among Asians.This enlightens us to establish a non-invasive prenatal screening method for Asians.This article reviews the progress of fetal RHD screening in Asian RhD-negative pregnant women.

关 键 词：RH-HR血型系统 孕妇 基因型 Rho(D)免疫球蛋白 胎儿 基因检测 产前诊断 

分 类 号：R457.11[医药卫生—治疗学]