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Newborn Screening for Cystic Fibrosis
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Newborn Screening for Cystic Fibrosis

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (31 January 2020) | Viewed by 46098

Printed Edition Available!
A printed edition of this Special Issue is available here.

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
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 submissions that pass pre-check are 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 1600 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

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Published Papers (12 papers)

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Editorial

Jump to: Review

2 pages, 165 KiB  
Editorial
Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It
by Carlo Castellani
Int. J. Neonatal Screen. 2020, 6(3), 57; https://doi.org/10.3390/ijns6030057 - 9 Jul 2020
Cited by 2 | Viewed by 2316
Abstract
Today, newborn screening (NBS) is considered an essential component in the standards of care for cystic fibrosis (CF) [...] Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
3 pages, 147 KiB  
Editorial
Why Do We Screen Newborn Infants for Cystic Fibrosis?
by Jürg Barben and Kevin W. Southern
Int. J. Neonatal Screen. 2020, 6(3), 56; https://doi.org/10.3390/ijns6030056 - 8 Jul 2020
Cited by 4 | Viewed by 2329
Abstract
The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in many countries of the world [...] Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)

Review

Jump to: Editorial

8 pages, 187 KiB  
Review
The Changing Face of Cystic Fibrosis and Its Implications for Screening
by Lutz Naehrlich
Int. J. Neonatal Screen. 2020, 6(3), 54; https://doi.org/10.3390/ijns6030054 - 3 Jul 2020
Cited by 12 | Viewed by 3581
Abstract
Early diagnosis, multidisciplinary care, and optimized and preventive treatments have changed the face of cystic fibrosis. Life expectancy has been expanded in the last decades. Formerly a pediatric disease, cystic fibrosis has reached adulthood. Mutation-specific treatments will expand treatment options and give hope [...] Read more.
Early diagnosis, multidisciplinary care, and optimized and preventive treatments have changed the face of cystic fibrosis. Life expectancy has been expanded in the last decades. Formerly a pediatric disease, cystic fibrosis has reached adulthood. Mutation-specific treatments will expand treatment options and give hope for further improvement of quality of life and life expectancy. Newborn screening for CF fits perfectly into these care structures and offers the possibility of preventive treatment even before symptoms occur. Especially in countries without screening, newborn screening will fulfill that promise only with increased awareness and new care structures. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
5 pages, 184 KiB  
Review
It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance
by Natasha Heather and Dianne Webster
Int. J. Neonatal Screen. 2020, 6(2), 47; https://doi.org/10.3390/ijns6020047 - 10 Jun 2020
Cited by 5 | Viewed by 2126
Abstract
Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis (CF) screening, key factors include how mild cases of late-presenting CF and CF screen positive, inconclusive diagnosis [...] Read more.
Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis (CF) screening, key factors include how mild cases of late-presenting CF and CF screen positive, inconclusive diagnosis (CFSPID) are counted, whether those at prior increased risk of CF are excluded from the screened population, and which aspects of the screening pathway are considered. This paper draws on the New Zealand experience of almost forty years of newborn screening for CF. We demonstrate how different definitions impact the calculation of screening sensitivity. We suggest that, to enable meaningful comparison, CF screening reports should clarify what steps in the screening pathway are included in the assessment, as well as the algorithm used and screening target. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
13 pages, 1352 KiB  
Review
Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis
by Rachael E. Armstrong, Lucy Frith, Fiona M. Ulph and Kevin W. Southern
Int. J. Neonatal Screen. 2020, 6(2), 40; https://doi.org/10.3390/ijns6020040 - 26 May 2020
Cited by 5 | Viewed by 3349
Abstract
Newborn bloodspot screening for cystic fibrosis is a valid public health strategy for populations with a high incidence of this inherited condition. There are a wide variety of approaches to screening and in this paper, we propose that a bioethical framework is required [...] Read more.
Newborn bloodspot screening for cystic fibrosis is a valid public health strategy for populations with a high incidence of this inherited condition. There are a wide variety of approaches to screening and in this paper, we propose that a bioethical framework is required to determine the most appropriate screening protocol for a population. This framework depends on the detailed evaluation of the ethical consequences of all screening outcomes and placing these in the context of the genetic profile of the population screened, the geography of the region and the healthcare resources available. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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13 pages, 1244 KiB  
Review
Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses
by Olaf Sommerburg and Jutta Hammermann
Int. J. Neonatal Screen. 2020, 6(2), 28; https://doi.org/10.3390/ijns6020028 - 30 Mar 2020
Cited by 10 | Viewed by 3043
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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8 pages, 221 KiB  
Review
Psychological Impact of NBS for CF
by Jane Chudleigh and Holly Chinnery
Int. J. Neonatal Screen. 2020, 6(2), 27; https://doi.org/10.3390/ijns6020027 - 30 Mar 2020
Cited by 16 | Viewed by 2892
Abstract
Newborn screening for cystic fibrosis has resulted in diagnosis often before symptoms are recognised, leading to benefits including reduced disease severity, decreased burden of care, and lower costs. The psychological impact of this often unsought diagnosis on the parents of seemingly well children [...] Read more.
Newborn screening for cystic fibrosis has resulted in diagnosis often before symptoms are recognised, leading to benefits including reduced disease severity, decreased burden of care, and lower costs. The psychological impact of this often unsought diagnosis on the parents of seemingly well children is less well understood. The time during which the screening result is communicated to families but before the confirmatory test results are available is recognised as a period of uncertainty and it is this uncertainty that can impact most on parents. Evidence suggests this may be mitigated against by ensuring the time between communication and confirmatory testing is minimized and health professionals involved in communicating positive newborn screening results and diagnostic results for cystic fibrosis to families are knowledgeable and able to provide appropriate reassurance. This is particularly important in the case of false positive results or when the child is given a Cystic Fibrosis Screen Positive, Inconclusive Diagnosis designation. However, to date, there are no formal mechanisms in place to support health professionals undertaking this challenging role, which would enable them to meet the expectations set out in specific guidance. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
9 pages, 833 KiB  
Review
Processing Newborn Bloodspot Screening Results for CF
by Jürg Barben and Jane Chudleigh
Int. J. Neonatal Screen. 2020, 6(2), 25; https://doi.org/10.3390/ijns6020025 - 25 Mar 2020
Cited by 13 | Viewed by 4117
Abstract
Every newborn bloodspot screening (NBS) result for cystic fibrosis (CF) consists of two parts: a screening part in the laboratory and a clinical part in a CF centre. When introducing an NBS programme, more attention is usually paid to the laboratory part, especially [...] Read more.
Every newborn bloodspot screening (NBS) result for cystic fibrosis (CF) consists of two parts: a screening part in the laboratory and a clinical part in a CF centre. When introducing an NBS programme, more attention is usually paid to the laboratory part, especially which algorithm is most suitable for the region or the country. However, the clinical part, how a positive screening result is processed, is often underestimated and can have great consequences for the affected child and their parents. A clear algorithm for the diagnostic part in CF centres is also important and influences the performance of a CF NBS programme. The processing of a positive screening result includes the initial information given to the parents, the invitation to the sweat test, what to do if a sweat test fails, information about the results of the sweat test, the inconclusive diagnosis and the carrier status, which is handled differently from country to country. The time until the definitive diagnosis and adequate information is given, is considered by the parents and the CF team as the most important factor. The communication of a positive NBS result is crucial. It is not a singular event but rather a process that includes ensuring the appropriate clinicians are aware of the result and that families are informed in the most efficient and effective manner to facilitate consistent and timely follow-up. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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16 pages, 1551 KiB  
Review
The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis
by Anne Bergougnoux, Maureen Lopez and Emmanuelle Girodon
Int. J. Neonatal Screen. 2020, 6(1), 23; https://doi.org/10.3390/ijns6010023 - 21 Mar 2020
Cited by 25 | Viewed by 4578
Abstract
There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-extended genetic analysis (EGA) by sequencing its [...] Read more.
There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-extended genetic analysis (EGA) by sequencing its coding regions has become affordable and has already been included as part of a limited number of core NBS programs, to the benefit of admixed populations. Based on results analysis of existing programs, the values and challenges of EGA are reviewed in the perspective of its implementation on a larger scale. Sensitivity would be increased at best by using EGA as a second tier, but this could be at the expense of positive predictive value, which improves, however, if EGA is applied after testing a variant panel. The increased detection of babies with an inconclusive diagnosis has proved to be a major drawback in programs using EGA. The lack of knowledge on pathogenicity and penetrance associated with numerous variants hinders the introduction of EGA as a second tier, but EGA with filtering for all known CF variants with full penetrance could be a solution. The issue of incomplete knowledge is a real challenge in terms of the implemention of NBS extended to many genetic diseases. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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7 pages, 867 KiB  
Review
Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
by Anne Munck
Int. J. Neonatal Screen. 2020, 6(1), 19; https://doi.org/10.3390/ijns6010019 - 12 Mar 2020
Cited by 26 | Viewed by 3868
Abstract
An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen-positive, [...] Read more.
An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe. Recently, experts agreed on a unified international definition of CRMS/CFSPID which will improve our knowledge on the epidemiology and outcomes of these infants and optimize comparisons between cohorts. Many of these children will remain free of symptoms, but a number may develop clinical features suggestive of CFTR-related disorder (CFTR-RD) or CF later in life. Clinicians should to be prepared to identify these infants and communicate with parents about this challenging and stressful situation for both healthcare professionals and families. In this review, we present the recent publications on infants designated as CRMS/CFSPID, including the definition, the incidence across Europe, the assessment of the CFTR protein function, the outcomes with the rates of conversion to a final diagnosis of CF and their management. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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18 pages, 1944 KiB  
Review
Newborn Screening for CF across the Globe—Where Is It Worthwhile?
by Virginie Scotet, Hector Gutierrez and Philip M. Farrell
Int. J. Neonatal Screen. 2020, 6(1), 18; https://doi.org/10.3390/ijns6010018 - 4 Mar 2020
Cited by 89 | Viewed by 8954
Abstract
Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with this potentially [...] Read more.
Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with this potentially fatal disorder. Each region has typically undertaken CF NBS after analysis of the advantages, costs, and challenges, particularly regarding the relationship of benefits to risks. The very fact that all regions that began screening for CF have continued their programs implies that public health and clinical leaders consider early diagnosis through screening to be worthwhile. Currently, many regions where CF NBS has not yet been introduced are considering options and in some situations negotiating with healthcare authorities as policy and economic factors are being debated. To consider the assigned question (where is it worthwhile?), we have completed a worldwide analysis of data and factors that should be considered when CF NBS is being contemplated. This article describes the lessons learned from the journey toward universal screening wherever CF is prevalent and an analytical framework for application in those undecided regions. In fact, the lessons learned provide insights about what is necessary to make CF NBS worthwhile. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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7 pages, 220 KiB  
Review
History of Newborn Screening for Cystic Fibrosis—The Early Years
by Georges Travert, Mary Heeley and Anthony Heeley
Int. J. Neonatal Screen. 2020, 6(1), 8; https://doi.org/10.3390/ijns6010008 - 31 Jan 2020
Cited by 18 | Viewed by 3675
Abstract
This review summarises the trajectory of neonatal screening strategies for the detection of cystic fibrosis (CF) using the measurement of Immunoreactive Trypsin (IRT) in dried blood spots (DBS) from 1979 until the beginning of the 21st century when newborn screening (NBS) programmes started [...] Read more.
This review summarises the trajectory of neonatal screening strategies for the detection of cystic fibrosis (CF) using the measurement of Immunoreactive Trypsin (IRT) in dried blood spots (DBS) from 1979 until the beginning of the 21st century when newborn screening (NBS) programmes started to spread throughout many countries, using IRT measurement combined with a CF genotype analysis of DBS. Full article
(This article belongs to the Special Issue Newborn Screening for Cystic Fibrosis)
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