Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns

Abstract 

Introduction: Since the initiation of pilot screening programs to detect congenital hypothyroidism (CH) in 1972, newborn screening has become routine in the developed world. A national screening program for CH was established in Saudi Arabia in November, 1989. Methods: The program utilizes cord serum thyroid stimulating hormone (TSH), tested by the Delfia method, supplemented when necessary with thyroxine (T4) assay, also by the Delfia method. TSH values above 60 mU/l alone were considered suggestive of CH and initiated recall of the infant. TSH values of 30–60 mU/l initiated T4 measurement. If the latter was below 80 nmol/l, the infant was also recalled. Results: Between November 1989 and April 1995, a total of 1007 350 infants were screened. The mean recall rate was 0.18% (range 0.05–0.3%). Of those, 306 infants were confirmed to have CH, indicating an incidence for CH in Saudi Arabia of 1:3292. However, a regional variation in incidence was noted. Of all the infants with congenital hypothyroidism who were adequately studied, 47.5% were found to have ectopic thyroid glands, 31.7% eutopic glands with increased ^99mTc uptake and 20.8% athyreotic. The mean age at the time of recall was 19.4 days (range 2–130). The average cost of screening was US S3.20 per specimen. Discussion: Several of the organizational and administrative difficulties which were encountered during the operation were discussed and solved at regional levels and during the annual general meetings.

Keywords: Neonatal screening, Congenital hypothyroidism, Saudi Arabia

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