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

Research Project

Project/Area Number 17591151
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Embryonic/Neonatal medicine
Research InstitutionKanazawa Medical University

Principal Investigator

INOUE Yoshito  Kanazawa Medical University, Medical Research Institute, Senior Assistant Professor, 付置研究所, 講師 (20080616)

Co-Investigator(Kenkyū-buntansha) KUHARA Tomiko  Kanazawa Medical University, Medical Research Institute, Professor, 付置研究所, 教授 (30080568)
Project Period (FY) 2005 – 2006
Project Status Completed (Fiscal Year 2006)
Budget Amount *help
¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 2006: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 2005: ¥800,000 (Direct Cost: ¥800,000)
Keywordsdried amniotic fluid on filter paper / prenatal diagnosis / propionic acidemia / multiple carboxylase deficiency / GC / MS / マルチプルカルボキシラーゼ欠損症
Research Abstract

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.

Report

(3 results)
  • 2006 Annual Research Report   Final Research Report Summary
  • 2005 Annual Research Report

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Published: 2005-04-01   Modified: 2016-04-21  

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