Outcomes of lowered newborn screening thresholds for congenital hypothyroidism.

Autor: Yu A; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Alder N; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Lain SJ; Child Population and Translational Health Research, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Wiley V; New South Wales Newborn Screening Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Disciplines of Genetic Medicine and Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia., Nassar N; Child Population and Translational Health Research, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Jack M; University Centre for Rural Health, Lismore, NSW 2480, University of Sydney, Lismore, Australia, Australia.
Jazyk: angličtina
Zdroj: Journal of paediatrics and child health [J Paediatr Child Health] 2023 Aug; Vol. 59 (8), pp. 955-961. Date of Electronic Publication: 2023 May 15.
DOI: 10.1111/jpc.16425
Abstrakt: Background: Newborn screening (NBS) has largely eliminated the physical and neurodevelopmental effects of untreated congenital hypothyroidism (CH). Many countries, including Australia, have progressively lowered NBS bloodspot thyroid-stimulating hormone (b-TSH) thresholds. The impact of these changes is still unclear.
Objectives: To evaluate the performance of CH NBS following the reduction of b-TSH thresholds in New South Wales (NSW) and the Australian Capital Territory (ACT), Australia, from 15 to 8 mIU/L, and to determine the clinical outcomes of cases detected by these thresholds.
Methods: NBS data of 346 849 infants born in NSW/ACT, Australia from 1 November, 2016-1 March, 2020 inclusive were analysed. A clinical audit was conducted on infants with a preliminary diagnosis of CH born between 1 January, 2016-1 December, 2020 inclusive.
Results: The lowered b-TSH threshold (≥8 mIU/L, ~99.5th centile) detected 1668 infants (0.48%), representing an eight-fold increase in recall rate, of whom 212 of 1668 (12.7%) commenced thyroxine treatment. Of these 212 infants, 62 (29.2%) (including eight cases with a preliminary diagnosis of thyroid dysgenesis) had an initial b-TSH 8-14.9 mIU/L. The positive predictive value for a preliminary diagnosis of CH decreased from 74.3% to 12.8% with the lowered threshold. Proportionally, more pre-term infants received a preliminary CH diagnosis on screening with the lower threshold (16.1% of 62) than with the higher threshold (8.0% of 150).
Conclusion: Clinically relevant CH was detected using the lowered threshold, albeit at the cost of an eight-fold increase in recall rate. Further clinical and economic studies are required to determine whether benefits of lowered screening thresholds outweigh potential harms from false-positive results on infants, their families and NBS programs.
(© 2023 The Authors. Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)
Databáze: MEDLINE
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