A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Sophia Weidler - , Department of Paediatrics (Author)
  • Konrad H. Stopsack - , Mayo Clinic Rochester, MN (Author)
  • Jutta Hammermann - , Department of Paediatrics (Author)
  • Olaf Sommerburg - , Heidelberg University  (Author)
  • Marcus A. Mall - , Heidelberg University  (Author)
  • Georg F. Hoffmann - , Heidelberg University  (Author)
  • Dirk Kohlmüller - , Heidelberg University  (Author)
  • Jürgen G. Okun - , Heidelberg University  (Author)
  • Milan Macek - , Charles University Prague (Author)
  • Felix Votava - , Charles University Prague (Author)
  • Veronika Krulišová - , Charles University Prague (Author)
  • Miroslava Balaščaková - , Charles University Prague (Author)
  • Veronika Skalická - , Charles University Prague (Author)
  • Min Ae Lee-Kirsch - , Department of Paediatrics (Author)
  • Marina Stopsack - , Institute for Clinical Chemistry and Laboratory Medicine (Author)

Abstract

Background In cystic fibrosis newborn screening (CFNBS), immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) can be used as screening parameters. We evaluated the IRT × PAP product as second-tier parameter in CFNBS in newborns with elevated IRT. Methods Data on 410,111 screened newborns including 78 patients with classical cystic fibrosis (CF) from two European centers were retrospectively analyzed by discrimination analysis to identify a screening protocol with optimal cutoffs. We also studied differences in PAP measurement methods and the association of IRT and PAP with age. Results PAP values differed systematically between fluorometric and photometric assays. The IRT × PAP product showed better discrimination for classical CF than PAP only as second-tier screening parameter (p < 0.001). In CF patients, IRT decreased while PAP values remained high over years. In newborns without CF, IRT decreased after birth over weeks while PAP increased within days. Conclusions The IRT × PAP product performs well as second-tier cutoff parameter for CFNBS. Screening quality parameters depend on the analytic method and on age at blood collection.

Details

Original languageEnglish
Pages (from-to)752-758
Number of pages7
JournalJournal of cystic fibrosis
Volume15
Issue number6
Publication statusPublished - 1 Nov 2016
Peer-reviewedYes

External IDs

PubMed 27461140

Keywords

Keywords

  • Cutoff, Cystic fibrosis, Immunoreactive trypsinogen, Newborn screening, Pancreatitis-associated protein