Tandem mass spectrometry (MS/MS) is a powerful tool that has been adapted lately for use with dried blood spot samples obtained in newborn screening programs. The technology can be used to screen for metabolites that accumulate in the blood in association with a variety of inborn errors of small molecule metabolism, including amino acid disorders, organic acidemias, and fatty acid oxidation defects. The state of North Carolina undertook a population based pilot MS/MS screening program in conjunction with NeoGen Screening, Inc. in 1997. MS/MS screening was added to the routine panel run by in the state laboratory beginning in April 1999.
From August 1997 through April 2001, more than 433,000 infants have been screened in North Carolina. We have identified 86 individuals with confirmed inborn errors of metabolism by screening (~1 in 5,000). These represent 13 different disorders, although many other diagnoses may also be recognized. All PKU screening is now done by MS/MS, as are follow-up measurements for on-going PKU management. Data regarding false positives and several missed diagnoses will be discussed, as will the issue of identification of metabolic derangements that are not due primarily to inborn errors. The experience with one defect of fatty acid oxidation, medium chain acyl-CoA dehydrogenase deficiency, will be used to demonstrate the power and benefit of MS/MS newborn screening.
Learning Objectives: vcv
Keywords: Screening,
Presenting author's disclosure statement:
Organization/institution whose products or services will be discussed: None
I do not have any significant financial interest/arrangement or affiliation with any organization/institution whose products or services are being discussed in this session.