Matthay K K, Golbus M S, Wara D W, Mentzer W C
Am J Med Genet. 1984 Apr;17(4):731-9. doi: 10.1002/ajmg.1320170404.
A luminol enhanced chemiluminescence micromethod has been adapted for use in prenatal diagnosis of chronic granulomatous disease (CGD). After validation of the assay in normal adults, newborns, fetuses, CGD carriers, and CGD patients, the fetuses of two pregnant CGD carriers were tested after fetoscopic aspiration of fetal blood. Normal neutrophil chemiluminescence and nitroblue tetrazolium slide tests were followed by delivery of two healthy infants whose normality was confirmed. Amniocytes proved useless for the prenatal diagnosis of CGD. They were found to have negligible nitroblue tetrazolium reduction, oxygen metabolism, and oxygen dependence.
一种鲁米诺增强化学发光微量法已被改编用于慢性肉芽肿病（CGD）的产前诊断。在对正常成年人、新生儿、胎儿、CGD携带者和CGD患者进行该检测方法验证后，对两名携带CGD的孕妇进行胎儿镜取血后，对其胎儿进行了检测。两名健康婴儿出生，其正常状态得到确认，此前他们的中性粒细胞化学发光和硝基蓝四氮唑玻片试验结果均正常。结果证明羊水细胞对CGD的产前诊断没有用处。发现它们的硝基蓝四氮唑还原、氧代谢和氧依赖性可忽略不计。
