目的了解嘉善县新生儿遗传代谢病筛查工作开展现状,探讨进一步提高和改进新生儿遗传代谢病筛查工作方法。方法根据卫生部《新生儿疾病筛查技术规范》要求,各助产单位经过培训的卫生专业人员,对嘉善县2004年-2013年在各助产机构出生的新生儿,在出生满72h并喂足6次奶后,采集足跟内侧或外侧3个血斑。采用时间分辨免疫荧光分析法和荧光分析法,分别检测血斑的促甲状腺素(TSH)水平和苯丙氨酸(PA)浓度,TSH水平的阳性切值>9.0μU/ml,PA浓度阳性切值>120μmol/L。召回可疑阳性新生儿,确诊后给予治疗及干预。结果 2004年-2013年嘉善县各助产机构活产数总计44201例,接受先天性甲状腺功能减退症(CH)和苯丙酮尿症(PKU)筛查的新生儿42 714例,平均筛查率96.64%。发现CH可疑阳性110例,召回率94.55%,确诊CH患儿14例,发病率1/3051;发现PKU可疑阳性120例,召回率93.33%,确诊PKU患儿7例,发病率1/6102。另确诊亚临床型CH 2例,四氢生物蝶呤缺乏症(BH4D)1例。治疗随访率100.00%。结论嘉善县新生儿遗传代谢病筛查工作已取得较好成绩,进一步提高需加强宣教,加大随访力度,并争取得到政府更多支持和投入。 Objective To understand the current status of genetic metabolic disease screening in newborns in Jiashan County and to explore ways to further improve and improve screening of genetic metabolic diseases in newborns. Methods According to the Ministry of Health “Newborn disease screening technical requirements”, each midwifery unit trained health professionals, from 2004 to 2013 in Jiashan County of newborns born in various midwifery, at the birth of 72h and fed After 6 times of milk, collecting three blood spots inside or outside the heel. Time-resolved immunofluorescence analysis and fluorescence analysis were used to detect TSH level and phenylalanine (PA) concentration of blood spot. The positive cut-off value of TSH was> 9.0μU / ml, and the PA concentration was positive Value> 120 μmol / L. Recall suspicious positive newborn, given diagnosis and treatment and intervention. Results From 2004 to 2013, 44,201 live births were reported in all midwifery institutions in Jiashan County, 42 714 newborns were screened for congenital hypothyroidism (CH) and phenylketonuria (PKU). The average screening rate 96.64%. The CH suspicious positive 110 cases, the recall rate of 94.55%, diagnosed CH children in 14 cases, the incidence rate of 1,3051; found PKU suspicious positive in 120 cases, the recall rate of 93.33%, diagnosed PKU children in 7 cases, the incidence rate of 1/6102. Another confirmed sub-clinical CH 2 cases, tetrahydrobiopterin deficiency (BH4D) in 1 case. Treatment follow-up rate was 100.00%. Conclusion The screening of neonatal genetic metabolic diseases in Jiashan County has achieved good results. To further improve the mission, it is necessary to step up education and increase follow-up efforts and win more support and investment from the government.