Muller F, Boué C
Chir Pediatr. 1986;27(4):220-3.
The prenatal diagnosis of cystic fibrosis is based on microvillar enzymes values in amniotic fluid taken by amniocentesis at precisely the 17-18 weeks gestation age (15-16 weeks developmental age). In pregnancies with a cystic fibrosis affected fetus the values of the enzymes are depressed. Since microvillar enzymes are normal constituents of amniotic fluid, it is important 1. to have highly reproducible techniques and 2. to determine the range of the normal values and their variations in relation to the development of the fetus. Prenatal diagnosis was performed in more than 200 pregnancies with a 1 in 4 risk of cystic fibrosis and was based on significant modifications of 6 amniotic fluid enzymes values: gamma-glutamyl-transpeptidase, aminopeptidase and alkaline phosphatase (total and isoenzymes). Normal outcome was predicted in 135 pregnancies reaching term, 133 babies were normal and 2 were affected. On the basis of significantly abnormal enzymatic values an affected fetus was predicted in 57 pregnancies, 3 went to term, the infants were affected, 54 were terminated and the diagnosis of cystic fibrosis was confirmed in the examined fetuses. The decrease in amniotic fluid microvillar enzymes values is the result of an obstruction of the terminal ileum. Fetuses affected with cystic fibrosis developed an intestinal obstruction around the 15th week of developmental age which can be seen by ultrasound scanning in about fifty per cent of the cases. This obstruction persists in some fetuses and leads to a meconium ileus at birth.
囊性纤维化的产前诊断基于在妊娠17 - 18周（发育龄15 - 16周）时通过羊膜穿刺术获取的羊水微绒毛酶值。在怀有受囊性纤维化影响胎儿的妊娠中，这些酶的值会降低。由于微绒毛酶是羊水的正常成分，重要的是：1. 拥有高度可重复的技术；2. 确定正常数值范围及其与胎儿发育相关的变化。对200多例有四分之一患囊性纤维化风险的妊娠进行了产前诊断，该诊断基于对6种羊水酶值的显著修改：γ - 谷氨酰转肽酶、氨肽酶和碱性磷酸酶（总酶和同工酶）。135例足月妊娠被预测为正常结局，133名婴儿正常，2名患病。基于显著异常的酶值，57例妊娠被预测胎儿患病，3例足月分娩，婴儿患病，54例终止妊娠，经检查胎儿确诊为囊性纤维化。羊水微绒毛酶值降低是回肠末端梗阻的结果。患囊性纤维化的胎儿在发育龄第15周左右会出现肠梗阻，约50%的病例可通过超声扫描看到。这种梗阻在一些胎儿中持续存在，并导致出生时胎粪性肠梗阻。
