Prenatal Diagnosis of Inherited Metabolic Disorders by Stable Isotope Dilution GC-MS Analysis of Metabolites in Amniotic Fluid: Review of Four Years Experience

  • C. Jakobs


The direct chemical analysis of metabolites excreted by the fetus using cell-free amniotic fluid obtained at 12–18 weeks of pregnancy offers the advantage of rapid and reliable prenatal diagnosis. This method can only be used when unambiguous discrimination is achieved between normal levels of a metabolite and the elevated levels observed in affected cases. This technique is particularly well suited for prenatal diagnosis of organic acidurias in which high concentrations of specific metabolites accumulate in urine. Similarly, abnormal metabolites produced by the fetus can accumulate in amniotic fluid since this is partially derived from fetal urine (Sweetman, 1984).


Amniotic Fluid Prenatal Diagnosis Glutaric Acid Glutaric Aciduria Type Stable Isotope Dilution 
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© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • C. Jakobs
    • 1
  1. 1.Department of PediatricsFree University Hospital AmsterdamAmsterdamThe Netherlands

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