Pitfalls in screening for neonatal hypothyroidism. Report of the New England Regional Screening Program and the New England Congenital Hypothyroidism Collaborative.

This report reviews problems encountered during the first five years of operation of the New England Regional Screening Program. Human error was responsible for either overlooked or delayed diagnosis and treatment in 14/159 infants with hypothyroidism. This group consisted of three infants who were never tested, six infants whose diagnosis was missed because of errors during the processing of the blood specimens, and five additional children in whom the diagnosis of hypothyroidism could not be made at birth because the concentrations of thyroid-stimulating hormone were not elevated. Many of the problems, most of which occurred during the first two years of the study, have been eliminated by improved communication and monitoring. This study emphasizes the potential vulnerability of all screening programs and underscores the need for physicians to continue to exercise their best clinical judgement regardless of the circumstances.