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目的调查分析珠海市2001—2009年新生儿先天性甲状腺功能减低症(甲低)的筛查结果,探讨新生儿疾病筛查在出生缺陷干预中的重要作用。方法筛查采用干滤纸片法测定全血中的促甲状腺素(thyroid-stimulating hormone,TSH),确诊使用化学发光法检测患儿血清中的游离T3(FT3)、游离T4(FT4)以及TSH。结果9年全市共筛查92 461例新生儿,筛查率呈逐年上升趋势,平均筛查率65.93%。检出甲低患儿47例,发病率为1/1 967,比全国1/3 009的发病率高(2=8.40,P<0.005)。结论珠海虽为海滨城市,但新生儿先天性甲低患病情况不容乐观。通过加强新生儿疾病筛查工作的普及,对先天性甲低患儿进行早期诊断、早期治疗,可有效地控制该出生缺陷给社会和家庭带来的危害。
Objective To investigate the screening results of congenital hypothyroidism (hypothyroidism) in newborns from 2001 to 2009 in Zhuhai, and to explore the important role of neonatal screening in the intervention of birth defects. Methods Screening thyroid-stimulating hormone (TSH) in whole blood was determined by dry filter paper method. Chemiluminescence was used to detect serum free T3 (FT3), free T4 (FT4) and TSH in children. Results A total of 92,461 newborns were screened in 9 years. The screening rate showed an upward trend year by year with an average screening rate of 65.93%. 47 cases with hypothyroidism were detected, the incidence was 1/1967, which was higher than the national incidence of 1,009 (2 = 8.40, P <0.005). Conclusion Although Zhuhai is a coastal city, the prevalence of congenital hypothyroidism in neonates is not optimistic. By strengthening the popularization of neonatal screening, early diagnosis and early treatment of children with congenital hypothyroidism can effectively control the harm to the society and families caused by this birth defect.