GESTATIONAL AGE-RELATED REFERENCE VALUES FOR AMNIOTIC-FLUID AMINO-ACIDS - A USEFUL TOOL FOR PRENATAL-DIAGNOSIS OF AMINOACIDOPATHIES

In this study we have measured the concentration of 24 amino acids and total homocysteine in amniotic fluids obtained between the tenth and 32nd week of gestation from pregnancies not at risk for metabolic dise ases. These results are used as reference values to which are compared values obtained from pregnancies at risk for citrullinaemia, arginino succinic aciduria, HHH (hyperornithinaemia, hyperammonaemia and homoci trullinaemia) syndrome, cobalamin metabolism disorders (CblC or CblD), and sulphite oxidase deficiency. We discuss the helpfulness of amino acid analysis in amniotic fluid for prenatal diagnosis of aminoacidopa thies.