改良PAGE电泳诊断胎儿神经管缺陷的临床应用

目的通过检测羊水乙酰胆碱酯酶（AchE）诊断和鉴别诊断胎儿神经管缺陷（NTDs）等疾病。方法采用SDS-PAGE凝胶电泳方法分离AchE。根据阳性对照判断AchE的电泳条带,并用密度仪检测AchE与假性胆碱酯酶（PchE）比值以及不同孕期（13～27周）与AchE/PchE的线性关系。结果 AchE/PchE比值≥0.139者为开放性神经管缺陷疾病（ONTDs）;比值在0.034～0.139者为胎儿腹壁裂或死胎等疾病;比值在0.034以下者为非NTDs。孕期在15～25周与AchE/PchE有一定的线性关系（r=0.9595）。结论采用羊水电泳检测AchE,可作为唐氏筛查的补充实验,用于临床诊断和鉴别诊断胎儿NTDs等疾病。

The clinical application of meliorated PAGE electrophoresis to diagnose fetal neural tube defects

Objective To diagnose the diseases of fetal NTDs by assaying AchE in amniotic fluid. Methods Using SDS-PAGE to separate AchE from other substances in the amniotic fluid,so-called amniotic fluid AchE electrophoresis,in which AchE can be identified by setting up a positive control. Similarly,PchE can be identified through SDS-PAGE,and thus the ratio of AchE/PchE can be obtained by the processing of photodensimeter,and view the linear correlation between the different gestation period（ 13-27 week） and the ratio of AchE/PchE. Results When AchE /PchE≥0. 139,ONTDS can be diagnosed; When the ratio of AchE/PchE falls in between 0. 034-0. 139,fetal gastroschisis（ anterior abdominal wall defect） or fetaldeath may be the diagnosis. When the ratio is below 0. 034,the daiagnosis is non-NTDs. And during the pregnancy of 15 weeks to 25 weeks the gestation period correlates positively to the ratio of AchE/ PchE is 0. 9595. Conclusions The method of amniotic fluid electrophoresis used to further confirm the screening results of Down Syndrome and analyze acetyl cholinesterase straps could be adopted to diagnose fetal NTDs and to make differential diagnoses in clinic applications.