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目的对大连市22万新生儿进行先天性甲状腺功能低下(CH)及苯丙酮尿症(PKU)两病筛查,探讨大连市两病的发病率。方法CH筛查采用时间分辨免疫荧光分析法(DELFIA)测定血促甲状腺素(TSH)浓度;PKU筛查使用化学荧光法测定血苯丙氨酸(Phe)浓度,试剂由芬兰WALLAC公司提供。结果大连市先天性甲状腺功能低下的发病率为1∶2713,苯丙酮尿症的发病率为1∶8662,与国内相关文献报道基本一致。结论新生儿疾病筛查能使CH、PKU得到早期诊治,避免发生体格和智力的障碍,具有重要的社会意义。
Objective To screen two hundred and twenty thousand newborns in Dalian for congenital hypothyroidism (CH) and phenylketonuria (PKU), and discuss the incidence of two diseases in Dalian. Methods Thyroxine thyroxine (TSH) concentrations were determined by time-resolved immunofluorescence assay (DELFIA) in CH screening. PKH screening was performed to determine the concentration of Phe by chemiluminescence assay. The reagents were supplied by WALLAC, Finland. Results The incidence of congenital hypothyroidism in Dalian was 1:2713 and the incidence of phenylketonuria was 1: 8662, which was basically consistent with that reported in domestic literature. Conclusion Neonatal screening can make early diagnosis and treatment of CH and PKU and avoid the physical and intellectual obstacles. It is of great social significance.