Szabó M, Teichmann F, Huszka M, Münnich A, Veress L, Papp Z
Department of Obstetrics and Gynecology, University Medical School, Debrecen, Hungary.
Acta Paediatr Hung. 1991;31(2):263-74.
Prenatal diagnosis was performed in 92 pregnancies high-risk for cystic fibrosis during six years. Amniotic fluid samples obtained by amniocentesis were examined with regard to their microvillar membrane enzyme activity. Though trehalase, alkaline phosphatase isoenzymes and L-gamma-glutamyltransferase in the amniotic fluid are not specific markers of cystic fibrosis, their activity is significantly lower than in normal pregnancies. By measuring the three enzymes simultaneously, sensitivity, specificity and reliability of the method were found to be over 92%. It is concluded that mid-trimester amniotic fluid diagnosis is indispensable for some heterozygotic couples for cystic fibrosis even in the possession of DNA (desoxyrobonucleic acid) methods.
六年间，对92例囊性纤维化高危妊娠进行了产前诊断。通过羊膜穿刺术获取羊水样本，检测其微绒毛膜酶活性。虽然羊水中的海藻糖酶、碱性磷酸酶同工酶和L-γ-谷氨酰转移酶并非囊性纤维化的特异性标志物，但其活性显著低于正常妊娠。同时检测这三种酶，该方法的敏感性、特异性和可靠性均超过92%。结论是，即使拥有DNA（脱氧核糖核酸）检测方法，孕中期羊水诊断对于一些囊性纤维化杂合子夫妇来说仍是必不可少的。
