Newborn screening for Inborn Errors of Metabolism (NBSIEM) began as a pilot program in Oct 2015 and was implemented to all birthing hospitals under the Hospital Authority in stages, with completion in October 2020. From April 2016 till October 2019, the number of conditions increased from 21 to 26. Based on the latest publication (Belaramani et al: Int J Neonatal Screen 2024) from October 2015 till December 2022, 125,688 newborns were screened and the overall recruitment rate was 99.5%. The recall rate was significantly reduced from 0.26% to 0.12% after the introduction of second-tier testing. An inherited metabolic disorder (IMD) was ultimately confirmed in 47 infants implying a prevalence of at least 1 in 2674 in Hong Kong. Around 79% of newborns were asymptomatic at the time of the NBS result. The most common IMD was carnitine uptake defect, followed by citrullinaemia type II. This talk will cover various aspects in the program including true positive, false positive, false negative, out-of-scope cases etc. It will finish with the hope to further expand the program to include other diseases such as lysosomal storage disorders.
