Brock D J, Bedgood D, Barron L, Hayward C
Lancet. 1985 May 25;1(8439):1175-8. doi: 10.1016/s0140-6736(85)92860-0.
An immunoassay based on monoclonal antibodies with specificity for the three major isoenzymes of alkaline phosphatase (ALP) has been used in second-trimester prenatal diagnosis of cystic fibrosis (CF). 140 pregnancies with a 1-in-4 risk of CF were assessed prospectively, and outcomes are reported for 100 of these. In 9 cases the diagnosis could not be confirmed or excluded, in 65 cases the infant was normal, and in 15 the infant had CF. In the remaining 11 cases, in which the pregnancy was terminated, the diagnosis of CF was confirmed in the abortus by measurement of albumin and protease levels in meconium scraped from the fetal ileum. Of the 26 cases of CF in the prospective series, 23 (88%) had values of intestinal ALP below half the median value for the corresponding week of gestation. Among those with normal outcomes 3 of 65 (4.6%) were below half-median. When prospective and retrospective data are summed the sensitivity of the test was 91% (39 of 43) and the false-positive rate 6% (5 of 81). This is probably an acceptable form of prenatal diagnosis of CF for the high-risk mother.
一种基于对碱性磷酸酶（ALP）三种主要同工酶具有特异性的单克隆抗体的免疫测定法已用于孕中期囊性纤维化（CF）的产前诊断。对140例有四分之一CF风险的妊娠进行了前瞻性评估，本文报告了其中100例的结果。9例无法确诊或排除诊断，65例婴儿正常，15例婴儿患有CF。在其余11例终止妊娠的病例中，通过测量从胎儿回肠刮取的胎粪中的白蛋白和蛋白酶水平，在流产儿中确诊为CF。在前瞻性系列中的26例CF病例中，23例（88%）肠道ALP值低于相应孕周中位数的一半。在结局正常的病例中，65例中有3例（4.6%）低于中位数的一半。将前瞻性和回顾性数据汇总后，该检测的敏感性为91%（43例中的39例），假阳性率为6%（81例中的5例）。对于高危母亲来说，这可能是一种可接受的CF产前诊断形式。
