Screening for congenital hypothyroidism in the Republic of Ireland.

Abstract

A national pilot study for detecting congenital hypothyroidism by radioimmunoassay of thyroid-stimulating hormone concentrations in dried blood was incorporated into the newborn screening programme in Ireland on 1 August 1979. The programme has been monitored by a steering committee and follows the guidelines set by the European Society of Paediatric Endocrinologists. During the first 12 months 76 224 infants were screened and 19 cases confirmed, giving an incidence of 1:4012. Fifty infants (0.07%) were recalled for a serum sample, though most of the recalls (31; 0.04%) occurred during the first three months, before the methodology had become established. No case was detected clinically. At recall only three of the 19 affected infants had obvious features, and nine inconspicuous features. Organisation was directed at early diagnosis and treatment, the mean age at beginning treatment being 15 days. These results confirm the efficacy of screening for congenital hypothyroidism and suggest that capital and running costs will be offset by savings in maintenance treatment of untreated patients. Screening does not, however, remove the need for continued vigilance, and clinicians should request thyroid-function tests in any suspected case.