Higami S, Nishizawa K, Omura K, Sugimoto K, Isshiki G
Tohoku J Exp Med. 1976 Apr;118(4):323-30. doi: 10.1620/tjem.118.323.
In 6 cases of high risk pregnancies for Tay-Sachs disease, prenatal diagnosis was successfully carried out by examining hexosaminidase A activity in the supernatant of amniotic fluid and the uncultured and cultured amniotic fluid cells. In 5 out of 6 cases, the activity of hexosaminidase A was found to be within normal or heterozygous levels. They continued their pregnancies and were delivered of healthy children. In the remaining 1 case, the activity was undetected. Her pregnancy was terminated at the 23rd week of gestation. There was no activity of hexosamindase A in the brain and liver from the aborted fetus. A moderate increase in GM2 ganglioside was found in the brain. Electron-microscopic findings revealed membranous cytoplasmic bodies in the spinal ganglion cells as well as in the nerve cells of the retina. These biochemical and histological findings of Tay-Sachs fetus suggest that the disease proceeds early in fetal period. It was found that the cultured amniotic fluid cells was the most reliable material for the prenatal diagnosis of Tay-Sachs disease, because the values of hexoxaminidase A in the cultured cells were well in accord with those in serum from the consequently bord children. Hexosaminidase pattern in the supernatant of amniotic fluid on DEAE-cellulose columnchromatogram showed a distinct difference between homozygote, heterozygote and normal. This procedure also may be useful for prenatal diagnosis of Tay-Sachs disease.
在6例患有泰-萨克斯病的高危妊娠病例中，通过检测羊水、未培养和培养的羊水细胞上清液中的己糖胺酶A活性，成功进行了产前诊断。6例中有5例，己糖胺酶A的活性处于正常或杂合水平。她们继续妊娠并生下了健康的孩子。在其余1例中，未检测到该活性。她在妊娠第23周时终止了妊娠。流产胎儿的脑和肝中没有己糖胺酶A的活性。在脑中发现GM2神经节苷脂有中度增加。电子显微镜检查结果显示，脊髓神经节细胞以及视网膜神经细胞中有膜性胞质小体。泰-萨克斯病胎儿的这些生化和组织学发现表明，该病在胎儿期早期就已发展。结果发现，培养的羊水细胞是泰-萨克斯病产前诊断最可靠的材料，因为培养细胞中己糖胺酶A的值与随后出生的儿童血清中的值非常一致。羊水上清液在DEAE-纤维素柱色谱上的己糖胺酶图谱显示，纯合子、杂合子和正常者之间存在明显差异。该方法也可能对泰-萨克斯病的产前诊断有用。
