ABSTRACT
In this report, we review our experience with the national screening programme for congenital hypothyroidism [CH] which was established in 1989. Babies who were born at Ministry of Health hospitals, private and other governmental hospitals were screened at birth for CH. Cord blood TSH + T4 are measured. TSH was assayed on single specimens, using the Delfia immunofluorescent technique [Pharmacia Diagnostic, Wallacory, Finland]. Infants were recalled, for confirmatory tests, if TSH > 60 mU/l or TSH > 30 < 60 with T4 < 80 nmol/l. Thyroid scanning was performed in biochemically confirmed cases. Out of 759,986 neonates screened, 237 were diagnosed to have CH giving an incidence of 1: 3205. Our recall rate was 0.13%. The cost of screening per specimen was SR 12 [3.2 US$]. The mean age of recall was 21 days [range: 6-64]. The majority of infants lacked clinical signs and symptoms of hypothyroidism. Thyroid scans showed the most common aetiology to be thyroid ectopy followed by dyshormonogenesis and aplasia. In conclusion, the incidence of CH was among the highest in the world. Our protocol showed an acceptable recall rate and proved to be cost effective. Mass cord blood screening is practical and feasible and should continue to be an important part of the overall preventive programme in the Kingdom