Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward

BACKGROUND: Many of the countries in the Asia Pacific Region are just initiating newborn screening programs for selected metabolic and other congenital disorders. The present study is aimed at evaluating the congenital hypothyroidism screening program in the Southern region of Sri Lanka in terms of coverage, effectiveness of detecting and managing the cases. METHODS: The Newborn Screening System Database of Sri Lanka was reviewed from January 2011 to December 2012. The data of 47 babies who tested positive for hypothyroidism were analyzed. RESULTS: Total of 78,167 babies (99.0% of live births) were screened. Of them, 5.8% (n = 4,472) were discharged within 12 hrs of delivery where as 58.1% (n = 44969) were discharged afterwards but within next 12 hrs (i.e., day 1). The positive predictive value for congenital hypothyroidism (CH) was 9.0%. The incidences of primary CH among screened infants were 1:1682. False positive rate among screened infants was maintained below 0.70%. Mean age of serum confirmation was 23.8 (±8) days. CONCLUSIONS: In the light of the present findings, we would suggest direct communication systems, linking newborn screening program to the family unit. This would enhance timely follow-up for screen-positive infants and facilitate information sharing. Establishing a program with, public-private sector partnership should be considered. Costs could be contained if the specimen collection, its transportation and communication are carried out by this partnership and the laboratory tests are conducted by a non-profit organization such as a University in order to achieve the goal of universal coverage. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/1472-6963-14-385) contains supplementary material, which is available to authorized users.