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瓜氨酸血症为精氨琥珀酸合成酶缺乏而引起尿素循环先天性障碍。作者介绍了从1980年以来十年的产前诊断经验,检测方法有四种:(1)检验羊水上清液中瓜氨酸含量;(2)培养胎儿细胞中检查酶活性;(3)胎儿组织或细胞蛋白对~(14)C-瓜氨酸结合试验;(4)DNA连锁分析。十年来作者已用上述方法,对28例胎儿作产前诊断,结果为23例预测未受累,4例受累,1例~(14)C-瓜氨酸结合检测提示受累,但用DNA连锁分析则正确预示未受累。作者用瓜氨酸作产前诊断做了26例单胎妊娠,1例双胎妊娠,共28个胎儿,结果是23
Citrullinemia is a congenital disorder of urea circulation caused by the absence of argininosuccinate synthase. The authors describe 10 years of experience in prenatal diagnosis since 1980. There are four methods of detection: (1) testing citrullinated acid in amniotic fluid supernatants; (2) examining enzyme activity in cultured fetal cells; (3) fetuses (14) C-citrulline binding assay of tissue or cellular proteins; (4) DNA linkage analysis. In the past decade, the authors used the above method to make prenatal diagnosis of 28 fetuses. The results showed that 23 of the fetuses were uninvolved, 4 of them were involved, and 1 ~ 14 C-citrulline binding test was indicated. However, Correct prediction is not affected. The authors used citrulline for prenatal diagnosis of 26 cases of singleton pregnancies, 1 case of twin pregnancies, a total of 28 fetuses, the result is 23