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羊水乙酰胆碱酯酶的定量和定性检测在神经管缺陷产前诊断中的应用

Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects.

作者信息

Voigtländer T, Friedl W, Cremer M, Schmidt W, Schroeder T M

出版信息

Hum Genet. 1981;59(3):227-31. doi: 10.1007/BF00283669.

Abstract

In 110 amniotic fluids the specific acetylcholinesterase was determined quantitatively and qualitatively. In the quantitative assay there were a considerable number of false positives and false negatives, although the mean value of the normal controls differed significantly from that of neural tube defect pregnancies. By the electrophoretic separation of acetylcholinesterase, however, all fluid samples with borderline alpha-fetoprotein levels or fetal blood contamination could be correctly classified. With the exception of one skin-covered spina bifida all neural tube defects in the second trimester could be identified by this method. The second fast-moving band characteristic of the specific acetylcholinesterase was also present in abdominal wall defects and intrauterine death.

摘要

对110份羊水样本进行了特异性乙酰胆碱酯酶的定量和定性测定。在定量分析中,尽管正常对照组的平均值与神经管缺陷妊娠组有显著差异,但仍存在相当数量的假阳性和假阴性结果。然而,通过乙酰胆碱酯酶的电泳分离,所有甲胎蛋白水平处于临界值或有胎儿血液污染的样本均可得到正确分类。除一例有皮肤覆盖的脊柱裂外,该方法可识别所有孕中期的神经管缺陷。腹壁缺陷和宫内死亡样本中也出现了特异性乙酰胆碱酯酶特有的第二条快速移动带。

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