囊性纤维化的产前检测。

Prenatal detection of cystic fibrosis.

作者信息

Nadler H L, Rembelski P, Meserow K, Gerbie A B

出版信息

Am J Obstet Gynecol. 1981 Dec 15;141(8):885-9. doi: 10.1016/s0002-9378(16)32679-5.

Abstract

Previous studies in our laboratory have suggested that measurement of methylumbelliferylguanidinobenzoate (MUGB) reactive proteases in midtrimester amniotic fluid is potentially of value for the intrauterine detection of cystic fibrosis. Thirty-nine pregnancies of obligate heterozygotes of cystic fibrosis and 12 cases where one parent has a sib with cystic fibrosis have been previously monitored by means of quantitative and qualitative measurements of MUGB in amniotic fluid. In all but one case the diagnosis was accurately ascertained in the midtrimester and confirmed after delivery. The measurement of MUGB reactivity in midtrimester amniotic fluid by three different procedures--quantitative analysis, polyacrylamide isoelectric focusing, and column filtration--appears to provide a practical and reliable approach for the intrauterine detection of cystic fibrosis.

摘要

我们实验室之前的研究表明，孕中期羊水甲基伞形基胍基苯甲酸酯（MUGB）反应性蛋白酶的检测对于宫内检测囊性纤维化可能具有价值。此前，通过对羊水MUGB进行定量和定性测量，对39例囊性纤维化 obligate杂合子妊娠以及12例父母一方有患囊性纤维化同胞的病例进行了监测。除1例病例外，所有病例在孕中期均准确确诊，并在分娩后得到证实。通过三种不同方法——定量分析、聚丙烯酰胺等电聚焦和柱过滤——测量孕中期羊水MUGB反应性，似乎为宫内检测囊性纤维化提供了一种实用且可靠的方法。