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GESTATIONAL AGE‐RELATED REFERENCE VALUES FOR AMNIOTIC FLUID AMINO ACIDS: A USEFUL TOOL FOR PRENATAL DIAGNOSIS OF AMINOACIDOPATHIES
Author(s) -
RABIER D.,
CHADEFAUXVEKEMANS B.,
OURY J. F.,
AUPETIT J.,
BARDET J.,
GASQUET M.,
MERHAND E.,
PARVY P.,
KAMOUN P.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199607)16:7<623::aid-pd921>3.0.co;2-5
Subject(s) - amniotic fluid , homocysteine , medicine , gestation , obstetrics , prenatal diagnosis , helpfulness , gestational age , pregnancy , physiology , amino acid , fetus , biology , biochemistry , psychology , social psychology , genetics
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 diseases. These results are used as reference values to which are compared values obtained from pregnancies at risk for citrullinaemia, argininosuccinic aciduria, HHH (hyperornithinaemia, hyperammonaemia and homocitrullinaemia) 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 aminoacidopathies.