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一项用于检测新生儿甲状腺功能减退症的区域性脐血筛查项目的结果。

Results of a regional cord blood screening programme for detecting neonatal hypothyroidism.

作者信息

Walfish P G, Ginsberg J, Rosenberg R A, Howard N J

出版信息

Arch Dis Child. 1979 Mar;54(3):171-7. doi: 10.1136/adc.54.3.171.

Abstract

Our regional cord blood screening programme for detecting neonatal hypothyroidism using initial cord blood thyroxine (T4) determinations, with supplemental thyrotropin (TSH), and triiodothyronine resin uptake (T3U) measurements, gave an incidence of thyroid abnormalities of 1/3000 births, with 1/5000 infants having severe primary hypothyroidism. No hypothyroid infant detected in the programme had been suspected clinically before the screening and, in retrospect, only a few babies had any signs of hypothyroidism. Supplemental TSH and T3U determinations were required on 8-12% of the population screened initially with a T4 test to avoid missing affected cases. With an initial T4 and supplementary TSH and T3U testing on cord blood serum, recalls to exclude primary hypothyroidism were reduced to 0.16% of the screened population. The incidence of abnormalities detected in this cord blood screening programme was comparable with that reported by others using neonatal dried blood screening methods, indicating that cord blood screening can be effective provided the appropriate recall criteria and transport conditions are used. Nevertheless, for several practical reasons, neonatal dried blood methods are recommended as the screening test of choice for surveying large populations over extensive geographical areas.

摘要

我们的区域性脐血筛查项目通过检测初始脐血甲状腺素(T4),辅以促甲状腺激素(TSH)和三碘甲状腺原氨酸摄取率(T3U)测量来检测新生儿甲状腺功能减退症。该项目中甲状腺异常的发生率为1/3000活产,严重原发性甲状腺功能减退症的发生率为1/5000活产。在该项目中检测出的甲状腺功能减退婴儿在筛查前临床上均未被怀疑,回顾来看,只有少数婴儿有甲状腺功能减退的迹象。对最初用T4检测筛查的人群中8 - 12%的人需要进行TSH和T3U补充检测,以避免漏诊受影响的病例。通过对脐血血清进行初始T4以及补充TSH和T3U检测,排除原发性甲状腺功能减退症的召回率降至筛查人群的0.16%。该脐血筛查项目中检测出的异常发生率与其他使用新生儿干血筛查方法报告的发生率相当,这表明只要使用适当的召回标准和运输条件,脐血筛查可以是有效的。然而,出于几个实际原因,推荐使用新生儿干血方法作为在广泛地理区域对大量人群进行筛查的首选检测方法。

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本文引用的文献

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Successful laboratory screening for congenital hypothyroidism.
Lancet. 1974 Jul 13;2(7872):77-9. doi: 10.1016/s0140-6736(74)91637-7.
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Congenital hypothyroidism--signs and symptoms in the newborn period.
J Pediatr. 1975 Dec;87(6 Pt 1):958-62. doi: 10.1016/s0022-3476(75)80918-8.

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