中山市PKU、CH、G6PD缺乏三种疾病新生儿筛查结果分析

目的　建立中山市新生儿疾病筛查方法 ,了解PKU、CH、G6PD缺乏的新生儿发病率。方法　 10 783例新生儿分别在出生时采脐血肝素抗凝和出生后 4 8h～ 72h采足跟血制成滤纸干血斑。G6PD缺乏的筛查采用脐血荧光斑点定性试验测定G6PD活性 ,PKU筛查采用荧光定量法检测滤纸干血斑中Phe含量 ,CH筛查采用DELFIA法检测滤纸干血斑中TSH含量。结果　CH发病率 1/ 2 6 96 ,G6PD缺乏检出率 3 4 6 % ,未检出PKU。结论　新生儿筛查是PKU、CH、G6PD缺乏患儿得到早期诊治避免发生体格和智能发育障碍的有效手段 ,是提高人口素质的重要措施。

Neonatal screening of PKU, CH and G6PD deficiENcy in Zhongshan city.

Objective: To establish screening methods of neonatal diseases and to investigate the frequencies of PKU, CH and G6PD deficiency in Zhongshan city. Methods:Cord blood samples were collected from 10 783 births and heparin-anticoagulated. Heel ones were collected from 48-72-hour-old newborns and dried on filter papers. The activity of G6PD was estimated by fluorescence-dot-test for G6PD deficiency. The quantities of Phe and TSH were estimated by fluorometric assay and DELFIA respectively. Results:The frequency of CH was 1/2696. The G6PD deficiency was 3.46%. None was found for PKU. Conclusion:Neonatal screening is the valid means to make patients of PKU, CH and G6PD deficiency diagnosed and treated earlier in order to avoid the developing of physical and mental retardations, and is the important measure to improve the quality of population.