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Article

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders

1
Department of Translational Medical Sciences, Cystic Fibrosis Centre, University Federico II, Via Sergio Pansini 5, 80131 Naples, Italy
2
CEINGE-Advanced Biotechnology, Via Gaetano Salvatore 486, 80145 Naples, Italy
*
Author to whom correspondence should be addressed.
Diagnostics 2020, 10(8), 570; https://doi.org/10.3390/diagnostics10080570
Received: 15 July 2020 / Revised: 5 August 2020 / Accepted: 6 August 2020 / Published: 8 August 2020
(This article belongs to the Special Issue Diagnosis and Management of Cystic Fibrosis)
Background: Newborn screening (NBS) early-identifies cystic fibrosis (CF), but in CF-screening positive inconclusive diagnosis (CF-SPID) the results of immunoreactive trypsinogen (IRT), molecular analysis and sweat test (ST) are discordant. A percentage of CF-SPID evolves to CF, but data on long-term monitoring are lacking. We describe the follow-up of all CF and CF-SPID identified between 2008 and 2019. Methods: NBS was performed by IRT followed by molecular analysis and ST between 2008 and 2014; double IRT followed by molecular analysis and ST after 2014. Results: NBS revealed 47 CF and 99 CF-SPID newborn, a ratio 1:2.1—the highest reported so far. This depends on the identification by gene sequencing of the second variant with undefined effect in 40 CF-SPID that otherwise would have been defined as carriers. Clinical complications and pulmonary infections occurred more frequently among CF patients than among CF-SPID. Two CF-SPID cases evolved to CF (at two years), while eight evolved to CFTR-related disorders (CFTR-RD), between one and eight years, with bronchiectasis (two), recurrent pneumonia (four, two with sinonasal complications), recurrent pancreatitis (two). No clinical, biochemical or imaging data predicted the evolution. Conclusion: Gene sequencing within the NBS reveals a higher number of CF-SPID and we first describe an approach to early identify CFTR-RD, with relevant impact on their outcome. View Full-Text
Keywords: cystic fibrosis; CF-SPID; CFTR-RD; newborn screening; genotype–phenotype correlation cystic fibrosis; CF-SPID; CFTR-RD; newborn screening; genotype–phenotype correlation
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MDPI and ACS Style

Castaldo, A.; Cimbalo, C.; Castaldo, R.J.; D’Antonio, M.; Scorza, M.; Salvadori, L.; Sepe, A.; Raia, V.; Tosco, A. Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders. Diagnostics 2020, 10, 570. https://doi.org/10.3390/diagnostics10080570

AMA Style

Castaldo A, Cimbalo C, Castaldo RJ, D’Antonio M, Scorza M, Salvadori L, Sepe A, Raia V, Tosco A. Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders. Diagnostics. 2020; 10(8):570. https://doi.org/10.3390/diagnostics10080570

Chicago/Turabian Style

Castaldo, Alice, Chiara Cimbalo, Raimondo J. Castaldo, Marcella D’Antonio, Manuela Scorza, Laura Salvadori, Angela Sepe, Valeria Raia, and Antonella Tosco. 2020. "Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders" Diagnostics 10, no. 8: 570. https://doi.org/10.3390/diagnostics10080570

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