Establishment of National programme on newborn screening for congenital hypothyroidism

Abstract

Introduction: Congenital hypothyroidism is one of common disorders related to mental impairment and growth retardation in newborns. Hence, screening programs are performed for early diagnosis as most infants are with no clinical signs for recognition at birth. Objective: To evaluate key performance indicators of the congenital hypothyroidism screening programme in terms of coverage, effectiveness of detection and managing cases during the year 2016. Methods: The Newborn Screening Information System Database of the Faculty of Medicine, University of Ruhuna, Galle (www.nsisd.ruh.ac.lk) was retrospectively analyzed to assess performance indicators. . . . Results: In 2016, 126,341 samples were received, and 101 babies were confirmed as having congenital hypothyroidism with an annual incidence of 1 in 1250 live births. The coverage rate of 76% of births and sample rejection rate was < 0.01% The sample collection ages ranged from 6 hours to 49 days with median age of screening sampling was <24 hours of age. The serum confirmation was made before 10 days of age among 14% (n=15) and within 11 - 21 days of age for 55% (n= 61) of babies with mean age for the start of the treatment was 18±9 days. . Conclusion: It has shown a good uptake of newborn screening with coverage of over 95% in areas for more than a year and overall 76% within months of inception. The laboratory and clinical services need to be improved to ensure that results are available and reviewed within the stipulated time frame. Liaison with the state public health department is important to promote community awareness and trace cases that required retesting. Periodic audits of the system are a necessity to identify any deficiency and improving the overall quality of the programme.

Keywords

• congenital hypothyroidism, newborns, screening program