佛山市先天性甲状腺功能减低症筛查

The Screening of Neonate for Congenital Hypothyroidism in Foshan

目的了解佛山市初生人口中先天性甲状腺功能减低症(CH)的发生率,探讨初筛实验中召回复查的适当阳性切割点(筛查切值)。方法对出生48～72h后的81439例新生儿采集足跟血滤纸标本,荧光免疫法检测血中促甲状腺素(TSH)浓度,确诊用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。TSH初筛结果≥8mIU/L即召回复查,并结合骨龄检查及甲状腺核素扫描以确诊。结果检出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减低症的发生率高于国内主要城市报道。原因考虑与充分利用本市新生儿疾病筛查工作三级管理网络,对初筛结果异常者复查率达100%及适当降低阳性切割点,及时召回复查,减少漏诊有关。

Objective To investigated the incidence of neonate with congenital hypothyroidism (CH)in Foshan and determine the positive cut-off point of the cases who would be recall for reexamination.Methods 81439 blood samples of neonates were collected After 48～72h at birthin our program for neonatalscreening for CH. The serum level of thyroid stimulating hormone (TSH) were detected by fluoroi -mmunoassay (FIS), but the levels of total triiodothyroxine (TT3), total thyroxine (TT4), free triiodothyroxine(FT3), free thyroxine (FT4), and TSH were determined by electrochemiluminescence (ECL) for the finaldiagnosis. The serum level of TSH, TT3, TT4, FT3 and FT4 were detected repeal for the cases whose TSH lessthan 8 mIU/L at the primary screen, also were their bone age and thyroid scan done. Results Fifty-twocases of CH were confirmed. CH occurred in about 63.85 /100,000 newborns (1:1566). Conclusions Theresults showed that the incidence of neonate with CH in Foshan was higher than those in the other maincities in our country. This situation was mainly attributed to that the 3-grades neonatal screeningprogram that had been established in Foshan was efficiently utilized; which provides approximately 100%of the abnormal cases who would be re-examined. The level of positive cut-off point was relative loweron the other hand, in which the susceptive cases could not be missed.