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

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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.