Abstract

To assess the performance of the use of umbilical cord blood for screening of primary congenital hypothyroidism in the Saudi Aramco Medical Services Organization newborn thyroid screening programme. Umbilical cord blood total thyroxin (CB-TT4) was measured. In samples with low T4 concentrations, an additional measurement of cord blood thyroid-stimulating hormone was made. A total of 96,015 newborn infants were screened in the period January 1990-December 2007. Twenty-six cases of primary congenital hypothyroidism, six cases of transient hypothyroidism and 13 cases of central hypothyroidism were detected. This method of screening resulted in 100% sensitivity and 98% specificity (95% CI 84-100, and 95% CI 98-98.2, respectively). However, there was a high mean recall rate of 1.9%. The use of CB-TT4 is a valid screening strategy for primary congenital hypothyroidism. It meets the metabolic screening demands of early discharge policy and guarantees screening all newborns delivered in the hospital.

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