Audit of screening for congenital hypothyroidism

The effectiveness and efficiency of the screening programme for congenital hypothyroidism in the Mersey region from 1983 to 1989 was examined by an analysis of laboratory, manual and computerised district records, case notes, and Hospital Activity Analysis data. Births from 1 January 1983 to 31 December 1989 formed the study cohort and the proportion of live births screened, age when treatment was started, validity of the screening test, and the outcome of treatment were determined. In nine out of 10 districts coverage of the neonatal population by the screening programme was incomplete and there was failure to follow up infants who had not been screened. The sensitivity of the test was 97% and the specificity was 99.9%. In 10% of the positive cases treatment was delayed beyond 21 days, the latest was 26 days. It is concluded that administrative deficiencies were predominantly responsible for the inefficiencies of the screening programme. The long term follow up of diagnosed cases should become part of the monitoring process.