Congenital hypothyroidism screening guidelines: A review

Abstract

Congenital hypothyroidism (CHT) is one of the most common preventable causes of mental retardation. In most case, it is due to defect in thyroid gland and usually asymptomatic at birth. To maximize the early detection of CHT so that pre-symptomatic treatment can be initiated to reduce the long-term morbidity associated with the condition if untreated and minimize second heel pricks, diagnostic delay and start treatment within 14 days of age of diagnosis and normalize TSH level within 1 month of treatment. The blood spot sample should be taken on day 5 (birth day count as zero) and in exceptional circumstances between day 5—8, for all babies regardless of medical condition, milk feeding and prematurity.