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90%以上的先天性肾上腺增生(CAH)病例是由21-羟化酶(21-OH)缺乏引起的。在未治疗病人中,这种缺乏导至血浆中17OH-黄体酮(170HP)浓度显著升高。因为在妊娠早期胎儿肾上腺合成类固醇,所以在妊娠的4～6个月采集羊水,测定170HP升高的浓度,可成功地进行21-OH缺乏的产前诊断。最近成功地使用羊水细胞的HLA分型。预测有21-OH缺乏风险的妊娠结果,然而,Forest等人(1981)报导,当把羊水
More than 90% of cases of congenital adrenal hyperplasia (CAH) are caused by a deficiency of 21-hydroxylase (21-OH). In untreated patients, this deficiency led to a significant increase in the concentration of 17OH-progesterone (170HP) in the plasma. Because steroids are produced by the fetal adrenal glands during the first trimester of pregnancy, amniotic fluid is collected 4 to 6 months gestation and the elevated concentration of 170 HP is measured to successfully perform prenatal diagnosis of 21-OH deficiency. Recently, HLA typing of amniotic fluid cells has been successfully used. Predicting pregnancy outcomes at risk of 21-OH deficiency, however, Forest et al. (1981) reported that amniotic fluid