Department of Endocrinology, Great Ormond Street Hospital, Hospital for Children, London, UK.
Developmental Endocrinology Research Group, Institute of Child Health, University College London, London, UK.
Eur Thyroid J. 2013 Sep;2(3):180-6. doi: 10.1159/000350039. Epub 2013 May 8.
The newborn screening programme for congenital hypothyroidism (CH) has led to the prevention of severe developmental delay associated with this condition. In the UK, thyroid-stimulating hormone (TSH) screening cut-off points have changed over time, in some instances prompted by changing methodological platforms. The use of borderline cut-off points varies throughout the country.
To use discordance in cut-off points to assess the performance of the UK Newborn Screening Programme Centre (UKNSPC) definitions.
Between January 2006 and December 2007, 223,658 newborn infants were screened by the Great Ormond Street Hospital (GOSH) for CH. All children with positive results and those with blood-spot TSH concentrations >6 mU/l on repeat screening were referred to GOSH. We compared the numbers of children detected and treated for CH using the GOSH cut-off points (>6 mU/l) and those of the national screening programme (>10 mU/l). Children were defined as transient CH if levothyroxine treatment had been discontinued by 3 years.
Of the children screened between January 2006 and December 2007, 167 out of 223,658 fulfilled the GOSH screening criteria; 136 of these required levothyroxine treatment, but 29 (21%) of the children treated would not have been detected by the current UKNSPC guidelines. Transient CH was found in 17/47 (36%) of the treated children detected with a cut-off point >6 mU/l. Raising the cut-off point to >10 mU/l reduced the number of children treated for transient CH to 4/18 (22%).
A significant number of children with true and transient CH are missed with a screening cut-off point of >10 mU/l. Our data suggests that a cut-off point of 6 mU/l is appropriate.
先天性甲状腺功能减退症（CH）的新生儿筛查项目已经预防了与这种情况相关的严重发育迟缓。在英国，促甲状腺激素（TSH）筛查的截止点随着时间的推移发生了变化，在某些情况下是由于方法平台的变化而引起的。在全国范围内，使用边界截止点的情况各不相同。
利用截止点的差异来评估英国新生儿筛查中心（UKNSPC）定义的性能。
在 2006 年 1 月至 2007 年 12 月期间，223658 名新生儿在大奥蒙德街医院（GOSH）接受 CH 的筛查。所有阳性结果的儿童和重复筛查时血斑 TSH 浓度>6mU/L 的儿童均被转介至 GOSH。我们比较了使用 GOSH 截止点（>6mU/L）和全国筛查计划（>10mU/L）检测和治疗 CH 的儿童数量。如果左旋甲状腺素治疗在 3 岁前停止，则将儿童定义为暂时性 CH。
在 2006 年 1 月至 2007 年 12 月期间筛查的儿童中，有 223658 名符合 GOSH 筛查标准的儿童中有 167 名；其中 136 名需要接受左旋甲状腺素治疗，但其中 29 名（21%）儿童按照现行的 UKNSPC 指南将无法被检测出来。在>6mU/L 的截止点检测到的 17/47（36%）治疗儿童中发现了暂时性 CH。将截止点提高到>10mU/L，将接受治疗的暂时性 CH 儿童数量减少到 4/18（22%）。
使用>10mU/L 的筛查截止点，会遗漏大量真正和暂时性 CH 的儿童。我们的数据表明，6mU/L 的截止点是合适的。
