Hoyer L W, Carta C A, Golbus M S, Hobbins J C, Mahoney M J
Blood. 1985 Jun;65(6):1312-7.
During the period from 1978 to 1983, 92 pregnancies have been evaluated by fetoscopy for the prenatal diagnosis of hemophilia A. Satisfactory fetal plasma samples were obtained in 80 instances and the diagnosis--or exclusion--of hemophilia was made by immunoradiometric assay of the factor VIII coagulant protein (VIII:CAg). The accuracy of the diagnosis established by fetoscopy has been verified after delivery or termination, and there have been no misdiagnoses resulting from laboratory error. Additional evidence for the accuracy of the analysis was the observation that the frequency of hemophilia in pregnancies of obligate carriers of the hemophilia gene, and of women whose plasma assays were indicative of the carrier state, was 29 of 59 fetuses at risk. In one case of cross-reacting material-positive hemophilia, samples obtained at fetoscopy and from the newborn infant had normal VIII:CAg levels but the infant had decreased factor VIII procoagulant activity. There were five fetal deaths resulting from fetoscopy in 55 pregnancies not intentionally terminated. Although only a small percentage of pregnant hemophilia carriers in the United States have elected to undergo fetoscopy for prenatal diagnosis, this procedure has allowed a number of pregnancies to go to term with delivery of normal males in families that were not willing to accept the risk of a hemophilic child. In eight instances, fetoscopic evaluation was sought for two successive pregnancies.
在1978年至1983年期间，对92例妊娠进行了胎儿镜检查，以进行甲型血友病的产前诊断。80例获得了满意的胎儿血浆样本，并通过对凝血因子VIII（VIII:CAg）的免疫放射分析对血友病进行诊断或排除。胎儿镜检查所确立诊断的准确性在分娩或终止妊娠后得到了验证，且没有因实验室误差导致的误诊。该分析准确性的额外证据是观察到，血友病基因携带者以及血浆检测表明为携带者状态的女性所怀胎儿中，有59例有患病风险，其中29例患血友病。在1例交叉反应物质阳性的血友病病例中，胎儿镜检查时及新生儿所取样本的VIII:CAg水平正常，但婴儿的凝血因子VIII促凝活性降低。在55例非故意终止妊娠的情况下，有5例因胎儿镜检查导致胎儿死亡。尽管在美国只有一小部分患血友病的孕妇选择接受胎儿镜检查以进行产前诊断，但这一程序使得一些家庭中许多妊娠得以足月，分娩出正常男性，而这些家庭原本不愿接受生出患血友病孩子的风险。有8例连续两次妊娠都进行了胎儿镜评估。
