摘要
目的建立基于荧光定量PCR(fluorescence quantitative PCR,FQ-PCR)技术的产前无创胎儿ABO、RhD及RhCE血型基因型联合检测方法,并评估其在胎儿新生儿溶血病(Hemolytic Disease of the Fetus and Newborn,HDFN)产前早期诊断中的临床价值。方法前瞻性纳入2022年1月至2024年12月于本院产检的200例单胎妊娠高风险孕妇,分为ABO血型不合组100例、RhD血型不合组50例、RhCE血型不合组50例及对照组200例,采用FQ-PCR技术检测母体血浆中胎儿游离DNA(cff-DNA),靶向ABO系统(261delG、796C>A)、RHD基因外显子5/7及RhCE系统(C/c、E/e)关键位点。产后通过脐带血血清学验证血型及溶血三项检测(直接抗人球蛋白试验、游离抗体试验、抗体释放试验),评估检测一致性及高危因素。结果ABO、RhD及RhCE血型的检测符合率分别为98.0%(98/100)、100.0%(50/50)及96.0%(48/50)。ABO血型不合组HDFN发生率为69.0%(69/100),显著高于RhD血型不合组(10.0%,5/50)及RhCE血型不合组(2.0%,1/50)。多因素分析显示,母亲O型血(OR=3.021)、母亲RhD阴性(OR=5.253)及产妇年龄≥35岁(OR=1.950)为HDFN独立危险因素(P均<0.05)。结论产前无创多重血型抗原基因型联合检测可显著提升HDFN早期诊断效能,为高危孕妇提供精准预警。
Objective To establish a prenatal non-invasive method for combined detection of fetal ABO,RhD,and RhCE blood group genotypes based on fluorescence quantitative PCR(FQ-PCR)technology,and to evaluate its clinical value in the early prenatal diagnosis of hemolytic disease of the fetus and newborn(HDFN).Methods A total of 200 highrisk singleton pregnant women who underwent prenatal examinations in our hospital from January 2022 to December 2024 were prospectively enrolled.They were divided into four groups:the ABO incompatibility group(n=100),the RhD incompatibility group(n=50),the RhCE incompatibility group(n=50),and the control group(n=200).FQ-PCR technology was used to detect cell-free fetal DNA(cff-DNA)in maternal plasma,targeting the ABO system(261delG,796C>A),exons 5/7 of the RHD gene,and the key loci of RhCE system(C/c,E/e).After delivery,the blood group of newborn was verified by serological testing of umbilical cord blood.,and the hemolysis panel tests(direct antiglobulin test,free antibody test,and antibody release test)were performed to evaluate the detection consistency and identify high-risk factors.Results The detection coincidence rates for ABO,RhD,and RhCE blood groups were 98.0%(98/100),100.0%(50/50),and 96.0%(48/50),respectively.The incidence of HDFN in the ABO incompatibility group was 69.0%(69/100),group(2.0%,1/50).Multivariate analysis identified maternal blood type O(OR=3.021),maternal RhD-negative(OR=5.253),and maternal age≥35 years(OR=1.950)as independent risk factors for HDFN(all P<0.05).Conclusion Prenatal non-invasive combined detection of multiple blood group antigen genotypes can significantly improve the efficiency of early diagnosis of HDFN and provide accurate early warning for high-risk pregnant women.
作者
胡舒瑶
赵亚琦
邓罗华
岳银萍
李艳
韩卫
HU Shuyao;ZHAO Yaqi;DENG Luohua;YUE Yinping;LI Yan;HAN Wei(Department of Blood Transfusion,The Second Affiliated Hospital of Xuzhou Medical University/Xuzhou Mining Group General Hospital,Xuzhou 221006,China;Department of Blood Transfusion,Xuzhou Children’s Hospital,Xuzhou 221006,China;Xuzhou Red Cross Blood Center,Xuzhou 221006,China)
出处
《中国输血杂志》
2025年第11期1535-1541,共7页
Chinese Journal of Blood Transfusion
基金
2021年徐州市卫生健康委青年医学科技创新项目(XWKYHT20210527)。
关键词
胎儿新生儿溶血病
无创产前诊断
荧光定量PCR
RhCE血型
胎儿游离DNA
hemolytic disease of the fetus and newborn
noninvasive prenatal diagnosis
fluorescence quantitative PCR
RhCE blood group
cell-free fetal DNA
