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Open AccessArticle

Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT

1
Clinical Laboratory, Hospital La Línea de la Concepción, 11300 Cádiz, Spain
2
Laboratory of Metabolic Disorders and Newborn Screening Center of Eastern Andalusia, Málaga Regional University Hospital, Avenida Arroyo de los Angeles s/n, 29011 Málaga, Spain
3
Department of Genetics, Málaga Regional University Hospital, 29011 Málaga, Spain
4
Department of Pediatrics, Málaga Regional University Hospital, 29011 Málaga, Spain
5
Institute of Biomedical Research in Málaga-IBIMA, 29010 Málaga, Spain
6
Department of Pharmacology and Pediatrics, University of Málaga, 29071 Málaga, Spain
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2019, 5(3), 32; https://doi.org/10.3390/ijns5030032
Received: 2 August 2019 / Revised: 29 August 2019 / Accepted: 1 September 2019 / Published: 3 September 2019
(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)
Identifying newborns at risk for cystic fibrosis (CF) by newborn screening (NBS) using dried blood spot (DBS) specimens provides an opportunity for presymptomatic detection. All NBS strategies for CF begin with measuring immunoreactive trypsinogen (IRT). Pancreatitis-associated protein (PAP) has been suggested as second-tier testing. The main objective of this study was to evaluate the analytical performance of an IRT/PAP/IRT strategy versus the current IRT/IRT strategy over a two-year pilot study including 68,502 newborns. The design of the study, carried out in a prospective and parallel manner, allowed us to compare four different CF-NBS protocols after performing a post hoc analysis. The best PAP cutoff point and the potential sources of PAP false positive results in our non-CF newborn population were also studied. 14 CF newborns were detected, resulting in an overall CF prevalence of 1/4, 893 newborns. The IRT/IRT algorithm detected all CF cases, but the IRT/PAP/IRT algorithm failed to detect one case of CF. The IRT/PAP/IRT with an IRT-dependent safety net protocol was a good alternative to improve sensitivity to 100%. The IRT × PAP/IRT strategy clearly performed better, with a sensitivity of 100% and a positive predictive value (PPV) of 39%. Our calculated optimal cutoffs were 2.31 µg/L for PAP and 167.4 µg2/L2 for IRT × PAP. PAP levels were higher in females and newborns with low birth weight. PAP false positive results were found mainly in newborns with conditions such as prematurity, sepsis, and hypoxic-ischemic encephalopathy. View Full-Text
Keywords: cystic fibrosis; newborn screening (NBS); dried blood spot (DBS); immunoreactive trypsinogen (IRT); pancreatitis-associated protein (PAP) cystic fibrosis; newborn screening (NBS); dried blood spot (DBS); immunoreactive trypsinogen (IRT); pancreatitis-associated protein (PAP)
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Sadik, I.; Pérez de Algaba, I.; Jiménez, R.; Benito, C.; Blasco-Alonso, J.; Caro, P.; Navas-López, V.M.; Pérez-Frías, J.; Pérez, E.; Serrano, J.; Yahyaoui, R. Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT. Int. J. Neonatal Screen. 2019, 5, 32.

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