Piceni Sereni L, Bachmann C, Pfister U, Buscaglia M, Nicolini U
Laboratory for Metabolic Diseases, I.C.P., Milano, Italy.
Prenat Diagn. 1988 May;8(4):307-9. doi: 10.1002/pd.1970080411.
In a pregnancy at risk for carbamoyl-phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.
在一例有氨甲酰磷酸合成酶（CPS）缺乏风险的妊娠中，于妊娠18周时尝试通过胎儿肝活检进行产前诊断。肝活检显示CPS活性缺失，终止妊娠后确诊。本文描述了胎儿肝活检技术，并对其在产前诊断中的可能作用进行了评估。
