Objective: Evaluation of the Dutch screening programme for congenital hypothyroidism (CH).
Methods: Data on the screening were obtained from the administration body for vaccination and screening results, laboratories and paediatricians to whom infants with positive screening values were referred, during the period from January 1st, 1981 to December 31st, 1990.
Results: Of all live births in the Netherlands, 99.5% (1,797,719) were screened for CH. During the study period, 10,165 children (0.57% of all screened infants) were referred. Of the referred children, 529 had primary CH and 53 had congenital thyrotropin deficiency syndrome (CTDS). The prevalences of primary CH and CTDS are 1:3,400 and 1:25,000, respectively. The sensitivity of the programme with respect to detection of primary CH and CTDS was 99% and 74%, respectively. For all forms of CH combined, the specificity of the programme was 99% and the positive predictive value 6%. The positive predictive value was especially low in the group of infants with low T4 and normal thyrotropin values. One of the goals of the programme is to realise the start of treatment in all patients before they reach the age of three weeks. Before the screening programme came into being, the cumulative proportion of patients treated on the 21st day was 6%. After the beginning of the programme, the proportion increased to 54%. In screened patients with a severe form of CH it is currently 72%.
Conclusion: The screening programme has made a substantial and important contribution to early and effective identification of patients with CH. A number of measures to decrease the number of false-positive results have been taken and others are at present being investigated. Although patients are now treated much earlier than before the programme started, substantial improvement in this respect is still possible. This can only be achieved by a collective effort of performers of the heel puncture, laboratories, administration body for vaccination and screening results, general practitioners and pediatricians.