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Prevention of Neurocognitive Impairment in Children Through Newborn Screening for Congenital Hypothyroidism.

Most newborn screening (NBS) programs use serum thyroid-stimulating hormone (TSH) as a primary test, and positive tests are confirmed by serum thyroxine (T4) levels. Infants with confirmed CH are started on treatment with levothyroxine (LT4) to achieve euthyroid state to prevent neurocognitive disabilities. TSH peaks in the first few days after birth and falls rapidly to 4-fold lower levels over the next few days. Mild increases in TSH over the recommended cut-off in NBS protocols for CH are often misclassified as normal. A significant number of these newborns may develop permanent primary hypothyroidism on follow-up. For this reason, many NBS programs order a second specimen in situations where the TSH concentration is mildly elevated between the cut-off and an upper limit of 40 or 50 mU/L [5,6]. A recent study noted that even in USA, many programs do not adjust TSH cut-offs according to the infant’s age, and initial as well as repeat TSH measurements are performed outside the age for which the cut-offs were established [7].