Life Course Epidemiology and Biostatistics, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Newcastle University and Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, United Kingdom.
J Clin Endocrinol Metab. 2018 Oct 1;103(10):3720-3728. doi: 10.1210/jc.2018-00658.
Active surveillance of primary congenital hypothyroidism (CH) in a multiethnic population with established newborn bloodspot screening.
To estimate performance of newborn screening for CH at different test thresholds and calculate incidence of primary CH.
Prospective surveillance from June 2011 to June 2012 with 3-year follow-up of outcomes. Relative likelihood ratios (rLRs) estimated to compare bloodspot TSH test thresholds of 6 mU/L and 8 mU/L, with the nationally recommended standard of 10 mU/L for a presumptive positive result.
UK National Health Service.
Clinician notification of children aged <5 years investigated following clinical presentation or presumptive positive screening result.
MAIN OUTCOME MEASURE(S): Permanent primary CH status determined by clinician report of continuing T4 requirement at 3-year follow-up.
A total of 629 newborns (58.3% girls; 58.7% white ethnicity) were investigated following presumptive positive screening result and 21 children (52.4% girls; 52.4% white) after clinical presentation; 432 remained on treatment at 3-year follow-up. Permanent CH incidence was 5.3 (95% CI, 4.8 to 5.8) per 10,000 infants. With use of locally applied thresholds, sensitivity, specificity, and positive predictive value were 96.76%, 99.97%, and 66.88%, respectively. Compared with a TSH threshold of 10 mU/L, positive rLRs for 8 mU/L and 6 mU/L were 1.20 (95% CI, 0.82 to 1.75) and 0.52 (95% CI, 0.38 to 0.72), and negative rLRs were 0.11 (95% CI, 0.03 to 0.36) and 0.11 (95% CI, 0.06 to 0.20), respectively.
Screening program performance is good, but a TSH threshold of 8 mU/L appears superior to the current national standard (10 mU/L) and requires further evaluation. Further research should explore the implications of transient CH for screening policy.
在已建立新生儿血斑筛查的多民族人群中，对先天性甲状腺功能减退症（CH）进行主动监测。
评估不同检测阈值下新生儿 CH 筛查的性能，并计算原发性 CH 的发病率。
从 2011 年 6 月至 2012 年 6 月进行前瞻性监测，并对结果进行 3 年随访。相对似然比（rLR）用于比较 TSH 血斑检测阈值为 6 mU/L 和 8 mU/L，与全国推荐的 10 mU/L 阳性结果假定值进行比较。
英国国民保健署。
临床医生通知，对出现临床症状或假定阳性筛查结果后进行调查的 5 岁以下儿童。
根据 3 年随访时临床医生报告的持续 T4 需求确定永久性原发性 CH 状态。
629 名新生儿（58.3%为女孩；58.7%为白种人）在假定阳性筛查结果后接受了调查，21 名儿童（52.4%为女孩；52.4%为白种人）在出现临床症状后接受了调查；432 名儿童在 3 年随访时仍在接受治疗。永久性 CH 的发病率为每 10,000 名婴儿中 5.3 例（95%置信区间，4.8 至 5.8）。使用当地应用的阈值，灵敏度、特异性和阳性预测值分别为 96.76%、99.97%和 66.88%。与 TSH 阈值为 10 mU/L 相比，8 mU/L 和 6 mU/L 的阳性 rLR 分别为 1.20（95%置信区间，0.82 至 1.75）和 0.52（95%置信区间，0.38 至 0.72），阴性 rLR 分别为 0.11（95%置信区间，0.03 至 0.36）和 0.11（95%置信区间，0.06 至 0.20）。
筛查计划的性能良好，但 TSH 阈值为 8 mU/L 似乎优于现行国家标准（10 mU/L），需要进一步评估。进一步的研究应探讨短暂性 CH 对筛查政策的影响。
