适当调整筛查切值 降低先天性甲状腺功能低下症的漏诊率

To Adjust the Uut-off Point Reasonably and Lower the Rate of missed diagnosis of Congenital Hypothyroidism

目的 了解佛山市初生人口中先天性甲状腺功能低下症(congenital hypothyroidism, CH)的发生率,探讨适当调整初筛实验中召回复查的筛查切值(阳性切割点),以降低先天性甲状腺功能低下症的漏诊率。 方法对81439例新生儿于出生72h后采集足跟血滤纸标本,荧光酶免疫分析法检测血中促甲状腺素(TSH)浓度, TSH初筛结果≥8mIU/L即召回复查;确诊以电化学发光法测定血清总三碘甲状腺原氨酸(TT3)、甲状腺素(TT4)、血清游离T3(FT3)、血清游离T4(FT4)及TSH浓度,并结合骨龄检查及甲状腺核素扫描以确诊。结果以8mIU/L为筛查切值诊断CH, 灵敏度达100%,、特异度91.24%; 检出52例CH,发生率63.85 /10万(1:1566)。结论本组筛查结果显示佛山市初生人口中先天性甲状腺功能低下症的发生率高于国内主城市报道。原因考虑与适当调整筛查切值,提高检测的敏感性,发现异常及时复查,充分利用本市新生儿疾病筛查工作三级管理网络对初筛结果异常者召回复查率达100%,减少漏诊有关。

Objective To investigate the incidence of newborns with congenital hypothyroidism(CH)in Foshan and to explore adjusting the positive cut-off point in the screening,the case above the valuewill be called for reexamination.Methods:81349 dried blood Samples were collected after 72h at birth inour program for CH screening.The TSH value on the filter Paper was measured by fluorescence enzymeimmunoassay(FEIA).Finial diagnosis was determined by the serum level of TT3、TT4 、FT3 、FT4 and TSHby electrochemiluminescence,also combined with bone age evaluation and thyroid scan.Result The cut-offpoint is 8mIU/L.The sensitivity is 100% and Specifility is 91.24%. Fifty-two cases of CH were comfirmed.The incidence of CH is 63.85/100,000(1:1566).Conclusions The result shows that the incidence of CHin Foshan is higher than that in the other main cities in china .This situation is mainly attributed toreasonably adjusting the Cut-off point,improving the sensitivity,reexaminating the abnormal case,efficiently utilizing the 3-grades neonatal screening program.our rate of reexamination about abnormalcase is approximately 100%, so that the susceptive cases could not be missed.