Ng W G, Donnell G N, Bergren W R, Alfi O, Golbus M S
Clin Chim Acta. 1977 Feb 1;74(3):227-35. doi: 10.1016/0009-8981(77)90289-3.
Prenatal diagnosis of disorders of galactose metabolism was done in one instance in a family with a known galactokinase deficiency and in six cases in five families at risk for galactosemia. The galactokinase activity in cultured amniotic cells was found to be normal, and the diagnosis was confirmed postnatally. In the six pregnancies at risk for galactosemia, four were considered to be unaffected and two to be affected. Of the latter, one was carried to term, and the erythrocyte transferase activity of the baby was shown to be absent. The other pregnancy was terminated, and examination of fetal tissues by biochemical studies confirmed the diagnosis. This experience substantiates the concept that prenatal diagnosis of disorders of galactose metabolism is feasible.
在一个已知存在半乳糖激酶缺乏症的家庭中，对1例半乳糖代谢紊乱进行了产前诊断；在5个有半乳糖血症风险的家庭中，对6例进行了产前诊断。结果发现培养的羊水中细胞的半乳糖激酶活性正常，产后确诊。在6例有半乳糖血症风险的妊娠中，4例被认为未受影响，2例受影响。在后者中，1例足月分娩，婴儿的红细胞转移酶活性显示缺乏。另一例妊娠终止，通过生化研究对胎儿组织进行检查，证实了诊断。这一经验证实了半乳糖代谢紊乱的产前诊断是可行的这一概念。
