Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence
Leal J., Wordsworth S., Oerton J., Khalid JM., Dezateux C.
Background and Objectives Several countries have included medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in their newborn screening programs. However, the sensitivity of the programs cannot be estimated directly as only individuals with a positive result undergo a definitive diagnostic test. We propose a framework to overcome this limitation and estimate the prevalence of disease, sensitivity of screening, and its yield relative to no screening.