Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007)

D. Matern, S. Tortorelli, Devin Oglesbee, D. Gavrilov, P. Rinaldo

Research output: Contribution to journalArticle

115 Citations (Scopus)

Abstract

The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false-positive rate. Some assays and analytes are particularly problematic. Over recent years, our laboratory tried to improve this situation by developing second-tier tests to reduce false-positive results in the screening for congenital adrenal hyperplasia (CAH), tyrosinaemia type I, methylmalonic acidaemias, homocystinuria, and maple syrup urine disease (MSUD). Beginning in 2004, this approach was applied to Mayo's newborn screening programme and resulted in a false-positive rate of 0.09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened.

Original languageEnglish (US)
Pages (from-to)585-592
Number of pages8
JournalJournal of Inherited Metabolic Disease
Volume30
Issue number4
DOIs
StatePublished - Aug 2007

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Newborn Infant
Maple Syrup Urine Disease
Tyrosinemias
Homocystinuria
Congenital Adrenal Hyperplasia
Sensitivity and Specificity
Lipoid congenital adrenal hyperplasia
Methylmalonic acidemia

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

Cite this

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests : The Mayo Clinic experience (2004-2007). / Matern, D.; Tortorelli, S.; Oglesbee, Devin; Gavrilov, D.; Rinaldo, P.

In: Journal of Inherited Metabolic Disease, Vol. 30, No. 4, 08.2007, p. 585-592.

Research output: Contribution to journalArticle

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