Elpeleg O N, Shaag A, Anikster Y, Jakobs C
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008.
Amniocentesis was performed in four pregnancies at risk for Canavan disease (CD). In all families both parents were of Ashkenazi-Jewish origin and harboured the C854 mutation in the cDNA of the aspartoacylase gene. Using DNA analysis of the amniotic cells, three fetuses were predicted to be non-affected and one fetus was predicted to be affected. The concentration of N-acetylaspartic acid (NAA) in the amniotic fluid was in agreement with these results. In urine samples of the three newborns predicted to be non-affected, the concentration of NAA was normal. Tissues of the aborted fetus were not available. We conclude that DNA analysis is probably a reliable method for prenatal diagnosis of CD.
对4例有患卡纳万病（CD）风险的孕妇进行了羊水穿刺检查。在所有家庭中，父母双方均为阿什肯纳兹犹太裔，且天冬氨酸酰基转移酶基因的cDNA中存在C854突变。通过对羊水细胞进行DNA分析，预测3例胎儿未受影响，1例胎儿受影响。羊水中N - 乙酰天冬氨酸（NAA）的浓度与这些结果相符。在预测未受影响的3例新生儿的尿液样本中，NAA浓度正常。流产胎儿的组织无法获取。我们得出结论，DNA分析可能是CD产前诊断的可靠方法。
