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目的:探讨检测脐血FⅧ活性对产前诊断甲型血友病的意义。方法:对25例有甲型血友病家族史的妊娠21～32周妇女行产前B超筛查,鉴定胎儿性别和有无结构畸形;在超声介导下行脐静脉穿刺术,脐血进行血红蛋白电泳、血常规、核型分析和测定血浆FⅧ活性。结果:产前B超检查结果22例为男性胎儿,3例为女性胎儿;24例胎儿发育未见明显异常,1例发现右侧盆腔异位肾。脐血核型分析结果显示,22例46,XY,2例46,XX,1例46,XX,inv(9)(p11q13),与B超性别鉴定结果相符。脐血FⅧ活性为0.6%～124.6%[(51.1±24)%],其中23例大于34%,诊断为正常胎儿,出生后随访均正常;2例分别为0.6%和3%,诊断为甲型血友病胎儿,引产终止妊娠。结论:超声介导下脐静脉穿刺术抽取脐血检测FⅧ活性用于产前诊断甲型血友病方法安全可靠;当无法获得家族中先证者或女性携带者的基因突变信息时,它甚至是唯一可靠的产前诊断方法。
Objective: To investigate the significance of detecting FⅧ activity of umbilical cord blood in prenatal diagnosis of hemophilia A Methods: A total of 25 pregnant women with a family history of hemophilia A were enrolled in this study. Prenatal B-screening was performed to identify the gender of the fetus and whether there was any structural abnormality. Ultrasound-guided umbilical vein puncture Hemoglobin electrophoresis, blood routine, karyotype analysis and determination of plasma FⅧ activity. RESULTS: Twenty-two cases of prenatal B-ultrasound were male fetuses and 3 female fetuses. No abnormalities were found in 24 fetuses and one case of right pelvic ectopic kidney. Umbilical cord karyotype analysis showed that 22 cases 46, XY, 2 cases 46, XX, 1 case 46, XX, inv (9) (p11q13), consistent with the B- The FⅧ activity of umbilical cord blood was 0.6% -124.6% (51.1 ± 24%), of which 23 cases were more than 34% and were diagnosed as normal fetuses and were followed up after birth. The two cases were 0.6% and 3% Hemophilia fetus, abortion termination of pregnancy. CONCLUSIONS: Ultrasound-guided umbilical cord venography is a reliable and safe method for the detection of FⅧ activity in umbilical cord blood for prenatal diagnosis of hemophilia A; even when it is impossible to obtain genetic mutation information from probands or women carriers in the family, Is the only reliable prenatal diagnostic method.