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Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds

Knowles, RL; Oerton, J; Cheetham, T; Butler, G; Cavanagh, C; Tetlow, L; Dezateux, C; (2018) Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds. Journal of Clinical Endocrinology and Metabolism , 103 (10) pp. 3720-3728. 10.1210/jc.2018-00658. Green open access

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Abstract

CONTEXT: Active surveillance of primary congenital hypothyroidism (CH) in a multi-ethnic population with established newborn bloodspot screening. OBJECTIVE: To estimate performance of newborn screening for CH at different test thresholds; to calculate incidence of primary CH. DESIGN: Prospective surveillance undertaken from June 2011 to June 2012 with three-year follow-up of outcomes. Relative likelihood ratios (rLRs) estimated to compare bloodspot thyroid-stimulating hormone (TSH) test thresholds of 6mU/L and 8mU/L, with the nationally recommended standard of 10mU/L for a presumptive positive result. SETTING: UK National Health Service. PATIENTS: Clinician notification of children aged under five years investigated following clinical presentation or presumptive positive screening result. MAIN OUTCOME MEASURE(S): Permanent primary CH status determined by clinician report of continuing thyroxine requirement at three-year follow-up. RESULTS: 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 three-year follow-up. Permanent CH incidence was 5.3 (95%CI 4.8, 5.8) per 10,000 infants. Using locally-applied thresholds, sensitivity, specificity and positive predictive value were 96.76%, 99.97% and 66.88% respectively. Compared with TSH threshold of 10mU/L, positive rLRs for 8mU/L and 6mU/L were 1.20 (95%CI 0.82, 1.75) and 0.52 (95%CI 0.38, 0.72), and negative rLRs 0.11 (95%CI 0.03, 0.36) and 0.11 (95%CI 0.06, 0.20) respectively. CONCLUSIONS: Screening programme performance is good, however a TSH threshold of 8mU/L appears superior to the current national standard (10mU/L) and requires further evaluation. Further research should explore the implications of transient CH for screening policy.

Type: Article
Title: Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds
Location: US
Open access status: An open access version is available from UCL Discovery
DOI: 10.1210/jc.2018-00658
Publisher version: http://dx.doi.org/10.1210/jc.2018-00658
Language: English
Additional information: This article has been published under the terms of the Creative Commons Attribution License (CC BY; https://creativecommons.org/licenses/by/4.0/).
Keywords: Congenital hypothyroidism, newborn screening, pediatrics
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10054554
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