Prenatal diagnosis of organic acidemia by measuring index compounds in dried amniotic fluid on filter paper using GC/MS

使用 GC/MS 测定滤纸上干燥羊水中的指标化合物对有机酸血症进行产前诊断

基本信息

批准号：
17591151
负责人：
INOUE Yoshito
金额：
$ 1.02万
依托单位：
Kanazawa Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2005
资助国家：
日本
起止时间：
2005 至 2006
项目状态：
已结题

项目摘要

Study of prenatal diagnosis of propionic acidemia or multiple carboxylase deficiency by measuring index compounds in dried cell-free amniotic fluid (AF) on filter paper using GC/MS. Even a doctor of a hospital of a remote region can send a sample to us if he uses this system.1.Establish of assay system:1) It was a most key point how to know the sampling volume of AF on a dried filter paper: It was established a calculating method as below. It was only saturated a filter paper known weight with AF and dried up under room temperature on site. It could be calculated the absorbed volume of AF from the weight of paper.2) Confirmation of extraction from filter paper and reproducibility: Known quantity of index compounds was added to AF, and it was absorbed to a filter paper and dried. It was extracted with distilled water from the filter paper. The extractive was prepared for GC/MS analysis by the method of previous report of AF. The measurement data were compared with the data of original AF.2. Control Values:We measured the sample which let a filter paper absorb control amniotic fluid and found control value. We also analyzed the filter paper of the amniotic fluids from pregnancies "at risk" for propionic academia, and could make a clear-cut diagnosis to each cases.This method is a semiquantitative analysis, but it became clear that this method is applicable for prenatal diagnosis.

通过使用GC/MS在滤纸上测量无细胞干燥的羊水（AF）中的丙酸血症或多种羧化合酶缺乏症的产前诊断或多种羧化酶缺乏症的研究。即使是偏远地区医院的医生，如果他使用此系统，也可以将样本发送给我们。1。建筑系统：1）如何了解干燥滤纸上AF的采样量的最关键点：建立了下面的计算方法。它仅饱和滤纸已知的重量，并在现场室温下干燥。可以计算出从纸张的重量中计算出的AF的吸收体积。2）确认从滤纸和可重复性中提取的确认：已知的索引化合物已添加到AF中，并将其吸收到滤纸上并干燥。用滤纸从蒸馏水中提取它。通过先前的AF报告方法准备了提取物进行GC/MS分析。将测量数据与原始AF.2的数据进行了比较。控制值：我们测量了样品，该样品使滤纸吸收控制羊水并找到控制值。我们还分析了妊娠“处于风险”的普遍学术界的羊水的滤纸，并可以对每种情况进行清晰的诊断。这种方法是一种半定量分析，但很明显，这种方法适用于产前。诊断。