云南省6州/市先天性甲状腺功能减低症筛查中TSH切值的确立

目的 探讨制定合理的新生儿遗传代谢病筛查中心实验室先天性甲状腺功能减低症 (congenital hypothyroidism, CH) 的筛查切值, 减少漏诊率, 同时降低假阳性率.方法 新生儿于出生72 h后采集足跟血, 滴于专用S&S903号滤纸上, 在规定的时间内递送到新生儿遗传代谢病筛查中心, 采用时间分辨荧光免疫分析方法 (Tr-FIA) , 检测滤纸干血片促甲状腺激素 (TSH) 浓度.结果 2012至2016年度共检测529 918份新生儿足跟血标本, TSH水平呈正偏态分布, 检出正常新生儿数为529645, 确诊CH患儿203例, 高TSH血症患儿70例, 总检出率为1:1941, CH发病率为1:2 610.根据筛查结果, 确定实验室时间分辨荧光免疫法筛查CH的TSH参考切值为9.0 m IU/L, 其灵敏度达100%, 特异度98.38%, 漏诊率0%.结论 新生儿遗传代谢病筛查中心实验室CH的筛查切值定为9.0 m IU/L, 较适合云南省6州/市人群, 也为实验室今后的新生儿CH筛查提供了依据.

The Determination of Cut-off Value of TSH during Screening of Congenital Hypothyroidism in 6 Prefecture/City of Yunnan Province

Objective To explore the positive cut-off value in neonatal screening for congenital hypothyroidism (CH) in the center of Neonatal Screening, so as to improve screening efficiency and reduce false positive rate. Methods Heel blood samples were taken from the newborns born after72 hours, dropped in special S&S903 filter paper and delivered to the neonatal screening center within the prescribed period of time.DELFIA was applied to detect the concentration of thyroid-stimulating hormone (TSH) .Result Totally 529918 blood sample were screened from the 2012 to the 2016.Among them 529645 newborns were normal, 203 neonates were diagnosed with CH, 70 with high TSH hyperlipidemia, the total detection rate was 1:1941, and the incidence of CH was 1:2 610. According to the results, the cut-off value of the screening of CH in the center of Neonatal Screening was 9.0 m IU/L, the sensitivity was 100%and specifility was 98.38%, misdiagnosis rate was 0%.Conclusion The cut-off value of CH was 9.0 m IU/L in the center of Neonatal Screening, which is suitable for the people in 6 Prefecture/City of Yunnan Province, and also provides the basis for neonatal scree of CH in the future.