新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查

目的　开展新生儿先天性甲状腺功能低下症(Congenital Hypothyroidism ,CH) 和苯丙酮尿症(Phenylketonuria,PKU) 筛查,降低残疾儿童的发生率,提高我国人口素质。方法　应用时间分辨荧光免疫法(TimeResolved Fluorescence Im munoassay ,Tr- FIA) 检测新生儿促甲状腺素(thyroid - stimulating hormone,TSH) 浓度筛查CH;用细菌抑制法(Bacterial Inhibition Assay, BIA) 测定新生儿血苯丙氨酸含量筛查PKU。结果　筛查新生儿CH295991 例,阳性63 例,筛查阳性率为1/4698 ;筛查新生儿PKU 205083 例,筛查阳性率为1/22787 。结论　Tr -FIA 技术是应用于新生儿筛查CH 最为理想的非放射性免疫分析方法;备有严格质量保证的标化枯草杆菌悬液,是做好BIA 筛查PUK 的先决条件;接受国际、国内对新生儿疾病筛查实验室质量监控,是对大批量检测标本质量的有效保证。

Screening for congenital hypothyroidism and phenylketonuria in newborn

Objective To develop screening for congenital hypothyroidism(CH) and phenylketonuria(PKU)in newborn to prevent the patients from growth and mental retardation and improve the eugenics of our country. Method To screen for CH by measuring thyroid stimulating hormone(TSH) value with time-resolved fluorescence immunoassay(Tr-FIA). To screen for PKU by measuring phenylalanine(Phe) with classic bacterial inhibition assay(BIA). Results 295991 neonates were screened for CH,63 cases were confirmed,the incidence was 1/4698.205083 neonates were screened for PKU and the incidence was 1/22787. Conclusion Screening CH with Tr-FIA is an ideal non-radioactive alternative,and worth using on large scale.Haveing the standardized Bacillus Subtills spore suspension is the prerequisite for screening PKU with BIA.To have quality assurance supervision for laboratory from domestic and international organizations is most important for ensuring the mass screening correctly.