What is a newborn screening program for inherited metabolic disorders?
A newborn screening program is an organized, systematic, and comprehensive approach for the early detection of clinically important IMDs in order to prevent serious illness, and to reduce death in infancy and early childhood. A comprehensive screening program involves collection of blood samples, screening, short term follow-up or retrieval of infants with positive tests, diagnosis, treatment of confirmed IMDs, and evaluation. The primary objective of a newborn screening program must be the delivery of appropriate and timely service to every newborn infant. During the past four decades newborn screening programs have been developed in many countries all over the world. Most programs focus on phenylketonuria (PKU) and congenital hypothyroidism (CH) together with a variable number of other disorders. Close inspection of regional and national newborn screening programs reveals an absence of universal screening — there is marked variation between regions within countries, especially in Can
