血友病A_____血友病A；产前诊断；脐带穿刺

脐带血用于血友病A产前诊断的研究

http://www.100md.com 《滨州医学院学报》 2005年第5期

血友病A,,血友病A；产前诊断；脐带穿刺,1临床资料,2结果,3讨论,参考文献

     【摘要】目的探讨应用脐带血对血友病A(HA)进行产前诊断的可行性及准确性。方法 24例HA携带者妊娠20～24周时在超声引导下抽取脐血，用一期法检测孕妇外周血及胎儿脐血FVⅢ：C，用ELISA方法检测FVⅢ：CAg及vWF；应用LDPCR技术对携带者及其胎儿进行内含子22倒位检测，对非倒位者应用Bc1 Ⅰ PCR/RFLP分析技术进行间接基因诊断。结果 24例携带者血浆FVⅢ：C，FVⅢ：CAg及vWF分别为36%～150%(平均79%±22%)，90%～132%(平均102%±18%)，92%～141%(平均107%±16%)；24例胎儿血浆FVⅢ：C，FVⅢ：CAg及vWF分别为09%～90%(平均417%±25%)，60%～77%(平均69%±16%)，58%～74%(平均66%±13%)，19例胎儿FVⅢ：C高于34%，5例胎儿FVⅢ：C低于5%；内含子22倒位胎儿1例，倒位携带者3例；Bc1 Ⅰ PCR/RFLP连锁分析诊断中型HA胎儿2例。结论脐静脉穿刺取血测定FVⅢ：C是产前诊断HA的可行性手段，应用LDPCR和Bcl Ⅰ PCR/RFLP基因分析技术可提高HA携带者的诊断率。

    【关键词】血友病A；产前诊断；脐带穿刺

    Prenatal diagnosis in hemophilia A by fetal blood sampling

    ZHANG Xueqin CHEN Huichang LI Wenchao et al

    Shandong Blood Center Shandong Center of Hemophilia Diagnosis and Treatment,Jinan 250014

    【Abstract】 Objective To investigate the feasibility and accuracy of hemophilia A prenatal diagnosis by fetal blood sampling.Methods Cordocentesis were performed in 24 pregnant hemophilia A carriers during 20~24 gestationak weeks.The pkasma coagukation factor Ⅷ activity (FVⅢ：C) of carrier's peripheral blood and fetus umbilical blood were detected by Bigg's onestage.Method The concentration of von Willbrand Factor (vWF) and FVⅢ：CAg were assayed by ELISA.Intron 22 inversion was directly examined by long distance polymerase chain reaction,indirectly gene diagnosis was done by utilizing heredity linkage analysis of factor Ⅷ intragenic Restriction Fragment Length Pokymorphism (RFLP) of Bck Ⅰ.Results FVⅢ：C ......

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