Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid.
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.
Chadefaux-Vekemans
B
B
Laboratoire de Biochimie médicale B, Hôpital Necker-Enfants Malades, Paris, France. bernadette.chadefaux-vekemans@nck.ap-hop-paris.fr
Rabier
D
D
Chabli
A
A
Blanc
A
A
Aupetit
J
J
Bardet
J
J
Kamoun
P
P
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry*; D001120:Arginine / Q000032:analysis*; D001124:Argininosuccinate Synthase / Q000032:analysis / Q000172:deficiency; D015193:Chorionic Villi Sampling; D002956:Citrulline / Q000032:analysis*; D020159:Citrullinemia / Q000175:diagnosis*; D005260:Female; D006801:Humans; D009952:Ornithine / Q000032:analysis*; D011247:Pregnancy; D012680:Sensitivity and Specificity
D002956:Citrulline; D001120:Arginine; D009952:Ornithine; D001124:Argininosuccinate Synthase