Abstract:
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. 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.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. 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.
