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Screening for congenital hypothyroidism. Results in the newborn population of New England
Insights
Congenital hypothyroidism screening in newborns identified an incidence of approximately 1:5,200 births. This program effectively screened over 129,000 infants using thyroxine and thyroid-stimulating hormone levels.
Area of Science:
- Pediatrics
- Endocrinology
- Public Health
Background:
- Congenital hypothyroidism (CH) is a treatable condition that can cause developmental delays if not identified early.
- Newborn screening programs are crucial for detecting CH in asymptomatic infants.
- The New England region initiated a screening program to assess CH incidence and effectiveness.
Purpose of the Study:
- To determine the incidence of congenital hypothyroidism in the New England region.
- To evaluate the efficacy of a large-scale screening program using thyroxine (T4) and thyroid-stimulating hormone (TSH) levels.
Main Methods:
- Screened 129,028 newborns for thyroxine (T4) levels in dried blood spots.
- Assayed 3,800 neonates with low T4 levels for thyroid-stimulating hormone (TSH).
- Calculated incidence based on confirmed CH cases.
Main Results:
- Identified 31 infants with elevated TSH levels from low T4 specimens.
- Confirmed unequivocal hypothyroidism in 23 infants.
- Estimated the incidence of CH at approximately 1:5,200 births in the region.
Conclusions:
- The combined T4 and TSH screening approach is effective for large-scale detection of CH.
- The New England Regional Hypothyroidism Screening Program successfully identified infants with CH.
- The incidence rate of 1:5,200 births provides valuable epidemiological data for the region.
Abstract:
During the first year of operation, the New England Regional Hypothyroidism Screening Program determined the concentration of thyroxine (T4) levels in dried blood on filter paper from 129,028 infants born in Connecticut, Maine, Massachusetts, New Hampshire, and Rhode Island. Specimens from approximately 3,800 neonates were found to have levels of T4 below the lower limit of normal (less than 6.0 microgram/dl) and were assayed for thyroid-stimulating hormone (TSH) content. Levels of TSH were elevated (greater than 20 muU/ml) in 31 infants, 23 of whom eventually proved to have unequivocal hypothyroidism. Based on these figures and including two hypothyroid infants who were not tested, the incidence of congenital hypothyroidism in the New England region is approximately 1:5,200 births. The estimation of T4 values supplemented by measurement of TSH values on specimens with low T4 values has proved to be a satisfactory approach to large-scale screening for congenital hypothyroidism.