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Screening for congenital hypothyroidism in the Republic of Ireland
Insights
Newborn screening for congenital hypothyroidism in Ireland detected 19 cases in the first year, confirming the effectiveness of early detection through radioimmunoassay of thyroid-stimulating hormone (TSH) in dried blood spots.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Public Health
Background:
- Congenital hypothyroidism (CH) is a common endocrine disorder in newborns.
- Early detection and treatment are crucial to prevent developmental delays.
- A national pilot study was initiated to assess a newborn screening program for CH.
Purpose of the Study:
- To evaluate the efficacy of a national pilot screening program for congenital hypothyroidism.
- To determine the incidence of CH in the Irish newborn population.
- To assess the clinical presentation and recall rates in the screening program.
Main Methods:
- Implementation of a newborn screening program using radioimmunoassay of thyroid-stimulating hormone (TSH) in dried blood spots.
- Screening of 76,224 infants over the first 12 months.
- Recall of infants with abnormal TSH levels for serum sample confirmation.
Main Results:
- An incidence of 1:4012 (19 confirmed cases) was identified.
- Fifty infants (0.07%) were recalled for further testing.
- No cases were detected clinically; most affected infants had subtle or no features at recall.
Conclusions:
- The screening program effectively identifies congenital hypothyroidism, enabling early diagnosis and treatment.
- Early treatment, initiated at a mean age of 15 days, is achievable.
- Screening costs are likely offset by savings in long-term care for untreated patients, but clinical vigilance remains essential.
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.