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Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003
J H Jones1, J Mackenzie, G A Croft
1Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK.
Insights
The Scottish newborn screening program for congenital hypothyroidism improved significantly between 1994-2003. However, late infant sampling and delays in repeat testing persist, impacting timely diagnosis and treatment.
Area of Science:
- Neonatal screening
- Endocrinology
- Public health
Background:
- Congenital hypothyroidism (CH) screening is crucial for early intervention.
- The Scottish program's performance has been periodically audited.
Purpose of the Study:
- To evaluate the Scottish CH newborn screening program's performance from 1994-2003.
- To compare current performance with data from 1979-1993.
Main Methods:
- Comparative analysis of performance metrics including age at sampling, notification, and treatment initiation.
- Assessment of the incidence of CH and prevalence of delays in the screening process.
Main Results:
- Improved median ages for Guthrie sampling (6 vs 7 days) and treatment initiation (11 vs 13.5 days).
- Reduced incidence of late sampling (>10 days) from 10.7% to 7%.
- Decreased late treatment (>16 days) from 19% to 7%.
Conclusions:
- The CH screening program in Scotland has shown improved performance over time.
- Persistent issues include late sampling, particularly in inpatients, and delays in the repeat sampling interval.
Aim:
To assess the Scottish newborn screening programme for congenital hypothyroidism from 1994 to 2003 (period 2) for performance and compare with an initial audit covering 1979 to 1993 (period 1).
Design:
Performance data-age at blood spot sampling, notification by screening laboratory, start of treatment, and the prevalence of late testing, notification or treatment-were compared, together with the incidence of congenital hypothyroidism.
Results:
Comparing data for period 2 with period 1, the mean annual incidence of true congenital hypothyroidism was 1:3655 live births v 1:4363. Median age for Guthrie sampling (all referrals) was 6 v 7 days (p<0.0001). Late sampling (>10 days) had fallen from 10.7% to 7%. For infants requiring repeat sampling before notification, the median (range) interval between initial and final repeat samples was 11 (1 to 52) compared with 14 (3 to 73) days. Median age at notification for true congenital hypothyroidism was 10 v 12 days (p <0.0001). Late notification (>15 days) was justifiable (mild TSH elevation) in 10 of 13 patients in period 2. Median age at start of treatment for true congenital hypothyroidism had improved to 11 days from 13.5 days. For true congenital hypothyroidism, late treatment (>16 days) occurred in 7% of patients compared with 19% (p<0.0001).
Conclusions:
There has been an improvement in performance measures for the congenital hypothyroidism screening programme in Scotland. However, late sampling, occurring primarily in inpatients and which is never justified, remains a problem, while the interval between initial and recall sampling is a further source of delay.