Christensen E, Brandt N J, Philip J, Bang J
Prenat Diagn. 1985 Jul-Aug;5(4):299-301. doi: 10.1002/pd.1970050410.
Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy.
通过对绒毛膜绒毛中的精氨琥珀酸合成酶进行直接检测，推测排除了有风险胎儿患瓜氨酸血症的可能。羊膜穿刺术后，通过培养的羊水细胞中精氨琥珀酸合成酶活性正常以及羊水中瓜氨酸浓度正常，确诊了这一诊断。足月时，一个非瓜氨酸血症男孩的出生证实了对正常胎儿的预测。
