title: An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
abstract: 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.
  
  
  METHODS
  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) and protein metabolism (PM), who presented clinically before NBS results were available, between 1-February-2002 and 31-January-2014.
  
  
  RESULTS
  Of 847,418 newborns screened, 18 infants presented clinically before NBS results were available (FAO n = 9, median age 2.5 days; PM n = 9, median age 3 days). Samples were collected from 11 infants at age 48-72 h, as per instructions, and were received in the laboratory at a median age of 7 days (median 4 days from sample collection until receipt in the laboratory). Results were available within 24h in 16/18 infants. Treatment for a suspected metabolic disorder was initiated in seven infants before results were available.
  
  
  CONCLUSIONS
  An audit of the programme procedures enabled the identification of issues that can be improved. Some patients benefited from the availability of results shortly after presentation. Good communication between the laboratory, the clinical metabolic specialist service and the primary treating team ensures timely initiation of treatment in these infants.
authors.affiliation: Metabolic Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Galit
authors.initials: G
authors.lastname: Tal
authors.affiliation: Metabolic Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: James
authors.initials: J
authors.lastname: Pitt
authors.affiliation: Metabolic Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Sally
authors.initials: S
authors.lastname: Morrisy
authors.affiliation: Metabolic Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Tzanakos
authors.affiliation: Metabolic Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. Electronic address: Avihu.boneh@rch.org.au.
authors.forename: Avihu
authors.initials: A
authors.lastname: Boneh
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001315:Australia; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D005260:Female; D006282:Health Personnel / Q000193:education; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D008485:Medical Audit; D015997:Neonatal Screening / Q000379:methods / Q000592:standards*; D012189:Retrospective Studies; D053719:Tandem Mass Spectrometry; D013997:Time Factors
chemical_list: C116917:acylcarnitine; D002331:Carnitine
keywords: Fatty acid oxidation; Newborn screening; Organic acidaemia; Tandem mass spectrometry; Urea cycle disorder