Journal article

An audit of newborn screening procedure: Impact on infants presenting clinically before results are available

Galit Tal, James Pitt, Sally Morrisy, Nicholas Tzanakos, Avihu Boneh

MOLECULAR GENETICS AND METABOLISM | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2015

Abstract

BACKGROUND AND OBJECTIVE: Tandem mass spectrometry-based newborn screening (NBS) is a powerful screening tool. The NBS process includes sample collection, shipment, testing, analysis, reporting and communication with the infant's family. We explored the NBS programme-related factors that may delay diagnosis and may influence timely initiation of treatment in neonates who present before the screening results are available and therefore urgently need diagnosis and treatment. STUDY DESIGN: Detailed retrospective review of all data regarding sampling, shipment, testing and notification, contact with family and initiation of treatment of all neonates with disorders of fatty acid oxidation (FAO) a..

View full abstract