Special Issue "Newborn Screening for Cystic Fibrosis"

Special Issue Editors

Prof. Dr. Jürg Barben
E-Mail Website
Guest Editor
Division of Pediatric Pulmonology and CF Centre, Children's Hospital of Eastern Switzerland, CH-9006 St. Gallen, Switzerland
Interests: newborn bloodspot screening; diagnostic tests for cystic fibrosis (sweat test); bronchoprovocation tests for asthma, acute bronchiolitis
Professor Jürg Barben is the Coordinator of the European CF Society (ECFS) Neonatal Screening Working Group.
Prof. Dr. Kevin Southern
E-Mail Website
Guest Editor
Institute of Translational Medicine, University of Liverpool, Liverpool L12 2AP, UK
Interests: newborn bloodspot screening; clinical trials for CF; systematic review of CF therapies

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is a common life-shortening disease affecting more than 40,000 individuals in Europe and around 100,000 individuals worldwide. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more pro-active therapy, and provision of care in specialized centers. The average life expectancy is now >40 years, and will increase significantly thanks to the introduction of new drugs, CFTR modulators, that target the underlying molecular defect.

The introduction of newborn bloodspot screening (NBS) for CF over the past 50 years has offered earlier diagnosis and better outcomes for children with CF in many countries. Screening for CF has been a paradigm change, and in most cases the diagnosis of CF after a positive NBS result is straightforward. A challenging sequelae of NBS has been the identification of infants with an inconclusive diagnosis after a positive screening result, which leads to uncertainty for healthcare professionals and families. The approach to these infants is evolving with increased experience and reporting of outcomes. It is important that strategies to evaluate and manage these challenging cases balance the best interests of all families, approaching this as the public health challenge it is, rather than as a diagnostic dilemma.

This Special Issue of the International Journal of Neonatal Screening on Newborn Screening for Cystic Fibrosis will focus on the state-of-the-art of the neonatal diagnosis of CF, with an emphasis on the different screening approaches and their advantages and disadvantages. It will also provide insight into the dilemma of the inconclusive diagnosis after NBS, now designated as CF screen positive, inconclusive diagnosis (CFSPID), and psychological impact on parents, as well as the monitoring of the performance of the screening.

Prof. Dr. Jürg Barben
Prof. Dr. Kevin Southern
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Newborn bloodspot screening (NBS)
  • Cystic fibrosis (CF)
  • Immuno-reactive trypsinogen (IRT)
  • CF screen positive
  • Inconclusive diagnosis (CFSPID)
  • CFTR-related metabolic syndrome (CRMS)
  • Pancreatitis associated protein (PAP)
  • DNA analysis
  • Variant
  • Public health

Published Papers

This special issue is now open for submission.
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