对Rh阴性孕妇进行Rh血型的无创产前检测  

Non-invasive prenatal testing of Rh blood group for Rh negative pregnant women

作　　者：闵晶 沈国松 张鑫丽 MIN Jing;SHEN Guosong;ZHANG Xinli(The medical laboratory center of Huzhou Maternity and Child Health Care Hospital,Huzhou,Zhejiang 313000,China)

机构地区：[1]湖州市妇幼保健院医学检验中心,浙江湖州313000

出　　处：《中国优生与遗传杂志》2024年第3期582-586,共5页Chinese Journal of Birth Health & Heredity

基　　金：湖州市科技局项目(2023GY06)。

摘　　要：目的探讨建立一种可以对Rh阴性孕妇进行胎儿Rh血型的无创产前检测方法。方法应用探针捕获和二代测序技术,对10例单胎中孕期的Rh阴性孕妇进行母血中胎儿游离DNA的RHD基因和RHCE基因的全部外显子进行高通量测序,并通过与人类基因组参考序列进行比对,判断其外显子缺失和突变情况,并将测得的Rh基因型与胎儿出生后的血清型表型对比分析,回顾性评价无创检测胎儿Rh血型的准确性。结果10例样本全部成功构建文库并完成高通量测序,测序质量良好。其中2个病例在RHD基因上存在严重的外显子缺失,其余未发现外显子缺失和有害突变情况。并且,基因分型结果与血清学表型一致。结论基于母血检测胎儿Rh血型的技术可行,可有效避免对RhD阴性孕妇的过度治疗和为预防胎儿与新生儿溶血症的发生提供可靠依据,同时也为无创单病技术的建立提供一定的参考。Objective To establish a non-invasive method for fetal Rh blood type detection in Rh negative pregnant women.Methods Using probe capture and next generation sequencing technology,all exons of RHD and RHCE genes were sequenced in cell-free fetal DNA from maternal blood of 10 Rh negative pregnant women,then evaluate the accuracy of noninvasive detection of fetal Rh blood type compared with Rh serotype of newborn.Results The libraries of 10 samples were successfully constructed and sequenced,and the sequencing quality was good.Two cases had severe exon deletion on RHD gene,and the rest had no exon deletion or harmful mutation.In addition,the genotyping results were consistent with the serological phenotype.Conclusion The technology of fetal Rh blood group detection based on maternal blood is feasible,which can effectively avoid excessive treatment of RhD-negative pregnant women and provide reliable basis for the prevention of hemolytic disease of the fetus and newborn,and also provide certain reference for the establishment of non-invasive single disease technology.

关 键 词：RH-HR血型系统 产前检测 基因诊断 

分 类 号：R714.5[医药卫生—妇产科学]