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Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses

1
Division of Pediatric Pulmonology & Allergy and Cystic Fibrosis Center, Department of Pediatrics III, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany
2
Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany
3
Pediatric Department, University Hospital of Dresden, Fetscherstr. 74, D-01307 Dresden, Germany
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 28; https://doi.org/10.3390/ijns6020028
Received: 4 February 2020 / Revised: 12 March 2020 / Accepted: 13 March 2020 / Published: 30 March 2020
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
There are currently four countries and one local region in Europe that use PAP in their newborn screening programme. The first country to employ PAP at a national level was the Netherlands, which started using IRT/PAP/DNA/EGA in 2011. Germany followed in 2016 with a slightly different IRT/PAP/DNA strategy. Portugal also started in 2016, but with an IRT/PAP/IRT programme, and in 2017, Austria changed its IRT/IRT protocol to an IRT/PAP/IRT program. In 2018, Catalonia started to use an IRT/PAP/IRT/DNA strategy. The strengths of PAP are the avoidance of carrier detection and a lower detection rate of CFSPID. PAP seems to have advantages in detecting CF in ethnically-diverse populations, as it is a biochemical approach to screening, which looks for pancreatic injury. Compared to an IRT/IRT protocol, an IRT/PAP protocol leads to earlier diagnoses. While PAP can be assessed with the same screening card as the first IRT, the second IRT in an IRT/IRT protocol requires a second heel prick around the 21st day of the patient’s life. However, IRT/PAP has two main weaknesses. First, an IRT/PAP protocol seems to have a lower sensitivity compared to a well-functioning IRT/DNA protocol, and second, IRT/PAP that is performed as a purely biochemical protocol has a very low positive predictive value. However, if the advantages of PAP are to be exploited, a combination of IRT/PAP with genetic screening or a second IRT as a third tier could be an alternative for a sufficiently performing CF-NBS protocol. View Full-Text
Keywords: cystic fibrosis; newborn screening; biochemical screening; pancreatitis associated protein; immunoreactive trypsinogen cystic fibrosis; newborn screening; biochemical screening; pancreatitis associated protein; immunoreactive trypsinogen
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Sommerburg, O.; Hammermann, J. Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses. Int. J. Neonatal Screen. 2020, 6, 28.

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