ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2019) 16 3.8 | DOI: 10.1530/ey.16.3.8

ESPEYB16 3. Thyroid Congenital Hypothyroidism (3 abstracts)

3.8. 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



To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.

This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH based newborn screening (n=629) or suspected congenital hypothyroidism on clinical grounds (n=21). Further, a three year follow-up period was added to exclude not confirmed cases and those who successfully discontinued levothyroxine (n=214). Based on this data set, incremental changes in the detection rate, false-positive rate, and relative likelihood ratios were assessed to compare the three thresholds. The optimal TSH threshold was 8 mU/L for newborns screened at day 5 of life.

As clinicians, we learn that such threshold analyses, adapted to nation-specific practices, are important means of quality control and should help to optimize detection rates of newborn screening programs.

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