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欧洲六国采用孕早期绒毛(CV)通过酶学方法进行产前诊断。对258例个体完成了38种代谢病的研究,检测出56例受累胎儿,其中检出27种疾病,并由流产胎儿组织所证实。最常见的妊娠风险为GM1和GM2神经节苷脂沉积症、异染脑白质病变、Gaucher氏病、MPSⅠ和Ⅱ、糖原累积病Ⅱ、胱氨酸病和Menkes综合征。受累胎儿占研究个体的22%,与预期风险值相一致。在绒毛组织中常遇到绒毛采样或酶表达的某些困难。涉及绒毛方面的困难有,绒毛取样少、绒毛中有较多血液、所取样品中无可识别的绒毛、母体细胞的污染、同一患者的标本之间酶活性存在差
The six European countries adopt preimplantation villus (CV) for prenatal diagnosis by enzymatic methods. A study of 38 metabolic diseases was completed in 258 individuals and 56 fetuses were detected, of which 27 were detected and confirmed by aborted fetal tissue. The most common gestational risks are GM1 and GM2 gangliosidosis, idiopathic leukoaraiosis, Gaucher’s disease, MPS I and II, glycogen storage disease II, cystine disease and Menkes’s syndrome. Affected fetuses accounted for 22% of individuals studied, consistent with the expected risk. Some difficulties with villus sampling or enzyme expression are often encountered in villous tissues. Difficulties related to villi are, less sample villus, more blood in the villus, the sample taken no identifiable villi, maternal cell contamination, there is a difference in enzyme activity between the specimens of the same patient