Outcomes of lowered newborn screening thresholds for congenital hypothyroidism

Outcomes of lowered newborn screening thresholds for congenital hypothyroidism

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...

Full description

Saved in:
Bibliographic Details
Published in:Journal of paediatrics and child health Vol. 59; no. 8; pp. 955 - 961
Main Authors: Yu, Aolei, Alder, Nelson, Lain, Samantha J, Wiley, Veronica, Nassar, Natasha, Jack, Michelle
Format: Journal Article
Language:English
Published: Australia John Wiley & Sons Australia, Ltd 01-08-2023
Blackwell Publishing Ltd
Subjects:
Congenital diseases
congenital hypothyroidism
dyshormonogenesis
Hypothyroidism
Medical screening
Newborn babies
newborn screening
Pediatrics
thyroid dysgenesis
Thyroid gland
transient hypothyroidism
Australia
thyroid dysgenesis
congenital hypothyroidism
newborn screening
dyshormonogenesis
transient hypothyroidism
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Bibliography:Conflict of interest: None declared.
Grants: None.
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1034-4810
1440-1754
DOI:10.1111/jpc.16425