AB057. Inborn error of metabolism screening: timeliness and clinical service outcomes in Singapore

摘要

BackgroundInborn error of metabolism (IEM) Screening is an important healthcare program for the detection of metabolic and heritable disorders. Screening activity includes the collection of a blood specimen from the newborn, specimen transport to Hospital Screening laboratory, analysis and reporting. The impact of delayed screening at any stage of this process can lead to delays in treatment and potential harm to the newborn. In this report we aim to: (I) evaluate the screening laboratory efficiency and timeliness of presumptive positive results; (II) compare the outcomes with International recommended benchmark.