Christensen E
Department of Pediatrics, Rigshospitalet, University of Copenhagen, Denmark.
Prenat Diagn. 1994 May;14(5):333-6. doi: 10.1002/pd.1970140503.
We have performed prenatal diagnosis for glutaryl-CoA dehydrogenase (GDH) deficiency in 16 pregnancies at risk by measuring the enzyme activity in chorionic villus samples. In most cases, GDH activity was measured both in uncultured chorionic villus samples and in cultured chorionic cells. In 4 of the 16 cases, an affected fetus was predicted, while the remaining cases were found to be normal. In three of the four affected cases, GDH activity was measured in both uncultured and cultured chorionic cells and the correct diagnosis established by both measurements. In the fourth case, only cultured cells were investigated because the chorionic villus sample was too small for the direct assay. All four pregnancies predicted to be affected were interrupted and the diagnoses confirmed on the aborted material in three of the cases. In the fourth case, no material was available for investigation. Of the 12 pregnancies predicted to be unaffected, ten cases resulted in the birth of healthy unaffected babies while two pregnancies are still in progress.
我们通过检测绒毛膜绒毛样本中的酶活性，对16例有戊二酰辅酶A脱氢酶（GDH）缺乏风险的妊娠进行了产前诊断。在大多数情况下，我们同时检测了未培养的绒毛膜绒毛样本和培养的绒毛膜细胞中的GDH活性。16例中有4例预测胎儿患病，其余病例被发现正常。在4例患病病例中的3例中，我们检测了未培养和培养的绒毛膜细胞中的GDH活性，并通过两种检测方法都做出了正确诊断。在第4例中，由于绒毛膜绒毛样本太小无法进行直接检测，所以只研究了培养细胞。预计受影响的4例妊娠均被终止，其中3例在流产材料上证实了诊断。在第4例中，没有可用材料进行调查。预计未受影响的12例妊娠中，10例产下了健康未受影响的婴儿，2例妊娠仍在进行中。
