Piraud M, Froissart R, Mandon G, Bernard A, Maire I
Centre d'Etude des Maladies Héréditaires du Métabolisme, Hopital Debrousse, Lyon, France.
Clin Chim Acta. 1996 Apr 30;248(2):143-55. doi: 10.1016/0009-8981(95)06250-5.
Seventy amniotic fluids (AF) were sampled because of abnormal ultrasound findings (mainly non-immune hydrops fetalis (54 cases) or of the presence of vacuolated lymphocytes in fetal blood (3 cases)). They were analysed by a procedure involving AF supernatant analysis (glycosaminoglycans, oligosaccharides, free sialic acid and acid hydrolase activities) and biochemical study of cultured AF cells. Ten cases of lysosomal storage diseases (LSD) were diagnosed. The reported procedure allows an orientating screening within 3 days by analysis of 15 ml of third trimester AF supernatant (except for Gaucher and Niemann-Pick diseases). In some cases, the results allow an LSD diagnosis and a medical abortion without waiting for the formal diagnosis (in cultured AF cells that needs 3 more weeks), considering the poor prognosis of these LSD presenting in utero. Furthermore, the formal assessment of the diagnosis in the cultured fetal cells allows accurate genetic counselling for the couple.
因超声检查结果异常（主要为胎儿非免疫性水肿54例，或胎儿血液中存在空泡化淋巴细胞3例），采集了70份羊水样本。通过羊水上清液分析（糖胺聚糖、寡糖、游离唾液酸和酸性水解酶活性）及培养羊水细胞的生化研究对样本进行分析。确诊了10例溶酶体贮积症（LSD）。所报道的方法通过分析15毫升孕晚期羊水上清液（戈谢病和尼曼-皮克病除外），可在3天内进行初步筛查。在某些情况下，鉴于子宫内出现的这些溶酶体贮积症预后不良，结果可在无需等待正式诊断（培养羊水细胞诊断还需3周时间）的情况下作出溶酶体贮积症诊断并进行人工流产。此外，对培养的胎儿细胞进行诊断的正式评估可为夫妇提供准确的遗传咨询。
