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近年来,小儿传染性疾病、营养缺乏症明显减少,而遗传代谢性疾病随着诊断水平的提高日益增多。国内外许多学者对有关围产儿遗传代谢性疾病的筛查与研究等做了大量工作。筛查方法包括羊水细胞遗传学检查和生化分析,对异常基因结构采用限制性内切酶的酶谱分析和限制性内切片段长度多态现象的连续分析法(RFLP)、胎儿镜、高分辨实时扫描仪以及绒毛膜活检、滋养层细胞DNA分析和羊水中AFP、胆碱脂
In recent years, pediatric infectious diseases, nutritional deficiencies significantly reduced, and genetic metabolic diseases with the diagnosis of increasing levels. Many scholars at home and abroad have done a great deal of work on the screening and research on the genetic metabolic diseases of perinatal children. Screening methods include amniocentesis cytogenetic examination and biochemical analysis of the abnormal gene structure using restriction endonuclease zymography and restriction endonuclease fragment length polymorphism of the continuous analysis (RFLP), fetoscope, high resolution Real-time scanner and chorionic biopsy, trophoblast DNA analysis and amniotic fluid AFP, choline