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Prenat Diagn. 2002 Jun;22(6):456-8.

Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid.

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  • 1Laboratoire de Biochimie médicale B, Hôpital Necker-Enfants Malades, Paris, France. bernadette.chadefaux-vekemans@nck.ap-hop-paris.fr

Abstract

Prenatal diagnosis of citrullinemia is performed using a direct argininosuccinate synthetase (ASS) assay on chorionic villi (CV) and citrulline concentration measurement in early amniotic fluid (AF). Here we report the results of 40 prenatal diagnoses performed using this method, discuss the difficulties encountered in interpreting the results, and propose the use of the citrulline/ornithine+arginine ratio (which is more discriminatory than citrulline concentration alone) when performing prenatal diagnosis of citrullinemia.

Copyright 2002 John Wiley & Sons, Ltd.

PMID:
12116302
[PubMed - indexed for MEDLINE]
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