Besley G T, Young E P, Fensom A H, Cooper A
Department of Paediatric Biochemistry, Royal Hospital for Sick Children, Edinburgh, UK.
J Inherit Metab Dis. 1991;14(2):128-33. doi: 10.1007/BF01800583.
Experience with first trimester diagnosis of inherited metabolic disease is still limited. In this report, data are collected from four major centres in the UK which provide a prenatal diagnosis service based on specific enzyme or gene product assay. The data were presented at a workshop on 'First Trimester Diagnosis of Inherited Metabolic Disease' held at the Institute of Child Health, London, on 21st June 1990. Approximately 100 different metabolic diseases can now be diagnosed in the first trimester, but because of the rarity of many of the disorders, experience of positive diagnoses, based on enzyme deficiency in fresh chorionic villus samples (CVS), cultured villus cells or early amniocentesis samples, is likely to be limited. It is, however, important that these results are reported and similarly that any problems which arise are fully documented.
孕早期遗传性代谢疾病诊断的经验仍然有限。在本报告中，数据收集自英国四个主要中心，这些中心基于特定酶或基因产物检测提供产前诊断服务。这些数据在1990年6月21日于伦敦儿童健康研究所举办的“遗传性代谢疾病的孕早期诊断”研讨会上公布。目前大约100种不同的代谢疾病可在孕早期得到诊断，但由于许多疾病较为罕见，基于新鲜绒毛膜绒毛样本（CVS）、培养的绒毛细胞或早期羊水穿刺样本中的酶缺乏进行阳性诊断的经验可能有限。然而，报告这些结果以及充分记录出现的任何问题非常重要。
