Active national surveillance to evaluate the performance and outcomes of newborn bloodspot screening for congenital hypothyroidism in the UK.
PHE ePoster Library. Knowles R. 09/12/17; 186636; 196
Dr. Rachel Knowles
Dr. Rachel Knowles
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Abstract
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Abstract Introduction: Primary congenital hypothyroidism (CHT) results in reduced thyroid hormone production. Newborn bloodspot screening, with oral thyroxine replacement commenced soon after birth, prevents cognitive impairment and improves growth. Despite 30 years of screening, the performance of the UK newborn CHT programme and its ability to identify babies with permanent CHT requiring lifelong therapy is unclear. Aim: To identify, through UK-wide active surveillance, children with confirmed/probable CHT; to evaluate screening programme performance.Methods: Active prospective surveillance through the British Paediatric Surveillance Unit and newborn screening laboratories from 2011-2012 to identify children aged <5 years investigated after a positive screening result or clinical presentation. Children were followed for three years to confirm CHT.Results: 629 newborns (58.3% girls; 58.7% white) were reported after presumptive-positive screen and an additional 21 children (52.4% girls; 52.4% white) after clinical presentation. 508 children commenced therapy; this was discontinued ('CHT transient/excluded') in 76 (15%) children, while 432 (85%) remained on treatment after three years ('confirmed/probable CHT'). Incidence of confirmed/probable CHT was 5.3 (95%CI 4.8, 5.8) per 10,000 live-births. Screening programme sensitivity, specificity and positive predictive value were 96.76%, 99.97% and 66.88% respectively.Conclusion: Performance of the UK CHT screening programme is good. Further research is needed to determine the optimum cut-off, given existing between-laboratory variation in screening test thresholds, and to determine whether sensitivity can be improved. 15% of babies commenced on thyroxine had transient thyroid dysfunction not requiring lifelong treatment. Longer-term follow-up is essential to avoid unnecessary continuation of therapy, and ascertain health and wider outcomes.
Abstract Introduction: Primary congenital hypothyroidism (CHT) results in reduced thyroid hormone production. Newborn bloodspot screening, with oral thyroxine replacement commenced soon after birth, prevents cognitive impairment and improves growth. Despite 30 years of screening, the performance of the UK newborn CHT programme and its ability to identify babies with permanent CHT requiring lifelong therapy is unclear. Aim: To identify, through UK-wide active surveillance, children with confirmed/probable CHT; to evaluate screening programme performance.Methods: Active prospective surveillance through the British Paediatric Surveillance Unit and newborn screening laboratories from 2011-2012 to identify children aged <5 years investigated after a positive screening result or clinical presentation. Children were followed for three years to confirm CHT.Results: 629 newborns (58.3% girls; 58.7% white) were reported after presumptive-positive screen and an additional 21 children (52.4% girls; 52.4% white) after clinical presentation. 508 children commenced therapy; this was discontinued ('CHT transient/excluded') in 76 (15%) children, while 432 (85%) remained on treatment after three years ('confirmed/probable CHT'). Incidence of confirmed/probable CHT was 5.3 (95%CI 4.8, 5.8) per 10,000 live-births. Screening programme sensitivity, specificity and positive predictive value were 96.76%, 99.97% and 66.88% respectively.Conclusion: Performance of the UK CHT screening programme is good. Further research is needed to determine the optimum cut-off, given existing between-laboratory variation in screening test thresholds, and to determine whether sensitivity can be improved. 15% of babies commenced on thyroxine had transient thyroid dysfunction not requiring lifelong treatment. Longer-term follow-up is essential to avoid unnecessary continuation of therapy, and ascertain health and wider outcomes.
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