O'Brien J S, Okada S, Fillerup D L, Veath M L, Adornato B, Brenner P H, Leroy J G
Science. 1971 Apr 2;172(3978):61-4. doi: 10.1126/science.172.3978.61.
Fifteen pregnant women with a 25 percent risk of delivering a child with Tay-Sachs disease were monitored by amniocentesis and hexosaminidase A assays of amniotic fluid, uncultured amniotic cells, and cultured amniotic cells. Tay-Sachs disease was diagnosed prenatally in six fetuses; the diagnosis was confirmed in one child after birth and in five fetuses after therapeutic abortion. Prenatal diagnosis indicated the absence of Tay-Sachs disease in nine other fetuses; this diagnosis was confirmed postnatally in six, three are still in utero.
对15名怀有患泰-萨克斯病胎儿风险为25%的孕妇进行了监测，通过羊水、未培养羊水细胞和培养羊水细胞的氨基己糖苷酶A检测。6例胎儿在产前被诊断为泰-萨克斯病；其中1例在出生后确诊，5例在治疗性流产后确诊。产前诊断表明另外9例胎儿未患泰-萨克斯病；其中6例产后得到证实，3例仍在子宫内。
