Kurczynski T W, Muir W A, Fleisher L D, Palomaki J F, Gaull G E, Rassin D K, Abramowsky C
Arch Dis Child. 1980 Sep;55(9):721-3. doi: 10.1136/adc.55.9.721.
A 20-year-old woman with untreated homocystinuria was examined when she was 18 weeks' pregnant. Amniocentesis was performed and raised levels of homocystine and methionine were present in the amniotic fluid. Assay of cystathionine synthetase activity in cultured amniotic fluid cells showed the carrier state for homocystinuria. An abortion was performed because of the possible adverse effects of continuing the pregnancy both for the mother and the fetus. No pathological abnormality was found in the aborted fetus. Further data are needed to assess the possible teratogenic effects of maternal homocystinuria and the adverse consequences of pregnancy in the affected mother.
一名患有未经治疗的同型胱氨酸尿症的20岁女性在怀孕18周时接受了检查。进行了羊膜穿刺术，羊水同型胱氨酸和蛋氨酸水平升高。对培养的羊水细胞进行胱硫醚合成酶活性测定显示为同型胱氨酸尿症的携带者状态。由于继续妊娠对母亲和胎儿都可能产生不利影响，因此进行了人工流产。流产胎儿未发现病理异常。需要更多数据来评估母亲同型胱氨酸尿症可能的致畸作用以及患病母亲妊娠的不良后果。
