摘要
目的对深圳市各设产科医院出生的新生儿进行先天性遗传性代谢异常疾病筛查,使患儿得到早期诊断和早期治疗,避免或减轻疾病对体格和智能发育的影响。方法应用自动连续微量流动荧光分析系统,对出生72h后,正常哺乳的新生儿足跟血干血片同步筛查三种疾病:苯丙酮尿症、半乳糖血症、葡萄糖6磷酸脱氢酶缺乏症。结果对深圳市548217名新生儿进行了筛查检测,筛查出4079名患儿,其中高苯丙氨酸血症6例、苯丙酮尿症12例、四氢喋呤缺乏症4例、高半乳糖血症10例、葡萄糖6磷酸脱氢酶缺乏症4047例。结论应用自动连续微量流动荧光分析系统进行新生儿疾病筛查具有自动化程度高,定量分析精确,重复性好,试剂成本较低等优点。
Objective The newborn mass-screening program for the early detection of inborn errors of treatable inherited metabolic disease aims to diagnose and treat patients in the early stage of the disease in order to prevent or reduce physical and mental retardations. Method Blood samples were taken from the heel of neonates 72 hours after born and all new-born babies were fully fed with milk beforehand. The fluorometric micro-continuous flow system was used for 3 screening tests simultaneously including Phenylketonuria （PKU）, Galactosemia, and Glucose-6-Phosphate Dehydrogenase Deficiency （G-6-PDD）. Results 548 217 newborns in the region of Shenzhen city have been screened. 4079 abnormal cases were found including 6 Hyperphenylalaninemia cases, 12 PKU cases, 4 Tetrahydrobiopterin deficiency cases, 10 Hyper- galactosemia cases, and 4047 G-6-PD cases. Conclusion The advantages of the fluorometric micro-continuous flow system are fully automated with a high precision, better reproducibility, and low reagent cost.
出处
《临床医学工程》
2009年第3期66-68,共3页
Clinical Medicine & Engineering
