Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants

Kyriakie M Sarafoglou, Amy Gaviglio, Amy Hietala, Garen Frogner, Kathryn Banks, Mark McCann, William Thomas

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Objective To compare 2 screening protocols performed concurrently in Minnesota: (1) liquid chromatography tandem mass spectrometry steroid profiling as a second-tier test on positive fluoroimmunoassay (FIA) results; and (2) low-birthweight 3-screen protocol (FIA tests at <48 hours, 2 weeks, 4 weeks) on all infants <1800 g, regardless of result. Study design Population-based study of all <1800 g infants (n = 8739) born in Minnesota from 2004-2010 comparing newborn screening performance metrics of 2-tier (FIA + liquid chromatography tandem mass spectrometry) protocol (2004-2010) vs 1-tier (FIA) low-birthweight 3-screen protocol (2006-2010). False positive (FP) rates were calculated per infant's final confirmatory result. Protocol results used in different time periods (2004-2005 vs 2006-2010) were compared by 2-sample tests of proportions; results of both protocols for 2006-2010 were compared by McNemar test. Results First-tier testing of final dried blood spot result (n = 6625) of the low-birthweight 3-screen protocol during 2006-2010 reduced the FP rate more than 5-fold (P <.0001) compared with 2-tier testing of a single dried blood spot (n = 2114) from 2004-2005. In comparing results (n = 6625) of both protocols from 2006-2010, first-tier testing of final dried blood spot accounted for 23% of FPs; second-tier testing of the first dried blood spot accounted for 77%, yielding significantly more FP results (McNemar test, P <.0001). Conclusion Timing of dried blood spot collection rather than assay used played a more important role in reducing FP results of congenital adrenal hyperplasia newborn screening in low birthweight infants.

Original languageEnglish (US)
Pages (from-to)1136-1140
Number of pages5
JournalJournal of Pediatrics
Issue number5
StatePublished - 2014

Bibliographical note

Copyright 2014 Elsevier B.V., All rights reserved.


  • 17-hydroxyprogesterone
  • 17OHP
  • CAH
  • Congenital adrenal hyperplasia
  • FIA
  • FN
  • FP
  • FPR
  • False negative
  • False positive
  • False positive rate
  • Fluoroimmunoassay
  • LC-MS/MS
  • Liquid chromatography-tandem mass spectrometry
  • NBS
  • NICU
  • Neonatal intensive care unit
  • Newborn screening
  • PPV
  • Positive predictive value
  • TP
  • True positive


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