Abstract
The IRT screening test for the use in diagnosing newborns with CF has a high sensitivity but is not very specific resulting in a large number of screened positive infants found to have a normal sweat test. The aim of this study was to analyze the differences in b-IRT levels among different groups of newborns positive to NBS.
Population data included all b-IRT positive (>99th centile) neonates born in Lombardia from 2000 to 2007. The hypertrypsinemic newborns were divided into four groups, according to CF status (noncarrier, carrier, CFTR-RD, CF).
Among a total of 717,172 newborns screened within the study period, 7,354 newborns were found positive to NBS and were included in the study. An overall statistically significant difference in b-IRT levels was found among the four groups (p < 0.001), while b-IRT values did not differ between noncarriers and carriers. b-IRT levels had a low predictive accuracy in correctly identifying the four different groups (c-index: 0.60), but the accuracy was high in discriminating between classic CF and carrier or noncarrier status in neonates positive to NBS. The IRT level on the initial blood specimen obtained at birth differs based on the CF genotype, although a wide range of individual variation may occur.
The authors Valentina Paracchini and Manuela Seia contributed equally to this work.
Competing interests: None declared.
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Abbreviations
- b-IRT:
-
Birth immunoreactive trypsinogen
- CF:
-
Cystic fibrosis
- CFTR:
-
Cystic fibrosis transmembrane conductance regulator
- CFTR-RD:
-
CFTR related disorder
- MLPA:
-
Multiplex ligation probe amplification assay
- NBS:
-
Newborn screening
- OLA:
-
Oligonucleotide ligation assay
- PAP:
-
Pancreatitis-associated protein
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Acknowledgments
This study was supported in part by the Italian Ministry of University and Research (MIUR), PRIN contract number 2005068307 (CC); grant Regione Lombardia, DG Sanità n. 12298 (2004), DG Sanità n.19081 (2005) (MS), and by the Italian Cystic Fibrosis Research Foundation.
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Communicated by: Rodney Pollitt.
Synopsis
Synopsis
The IRT level on the initial blood specimen obtained in neonates at birth differs based on the CF genotype, although a wide range of individual variation may occur.
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Paracchini, V. et al. (2011). Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates. In: JIMD Reports - Case and Research Reports, 2012/1. JIMD Reports, vol 4. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_55
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DOI: https://doi.org/10.1007/8904_2011_55
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