摘要
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 Jiashan County neonatal metabolic disease genetic screening work in the current situation,to further enhance and improve the work method of neonatal screening for inherited metabolic diseases. Methods：according to the Ministry of health ＂neonatal screening specification＂ requirements,the obstetric units trained health professionals in Jiashan County,was born in the midwifery institutions 2004-2013 babies,born in over 72 hours and enough to feed 6 times after the milk collection,heel medial or lateral 3 blood spot. Using time-resolved immunofluorometric assay and fluorescence analysis method,were used to detect the spots of blood thyroid stimulating hormone（TSH）level and phenylalanine（PA）concentration,positive surgical levels of TSH〉9 μ U/ml,concentration of PA positive shear value〉120 μ mol/L. Recall the suspicious positive neonatal treatment after diagnosis,and intervention. Results：2004-2013 years in Jiashan County,the number of live births in midwifery institutions a total of 44201 cases,with congenital hypothyroidism（CH）and phenylketonuria（PKU）screening of 42714 neonates with an average of 96.64%,the screening rate. CH was found suspicious positive in 110 cases,the recall rate of 94.55%,with 14 CH patients,the incidence of 1/3051;found PKU was suspected in 120 cases,the recall rate of 93.33%,with 7 PKU patients,the incidence rate of 1/6102. The other 2 cases were diagnosed subclinical CH,four tetrahydrobiopterin deficiency（BH4D）in 1 cases. Treatment and follow-up rate was 100%. Conclusion：Jiashan county has achieved good results of neonatal screening for inherited metabolic diseases,further improve the need to strengthen education,strengthen follow-up efforts,and strive to receive more government support and investment.
出处
《中国优生与遗传杂志》
2014年第11期136-138,共3页
Chinese Journal of Birth Health & Heredity
