Neonatology

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Cystic fibrosis

Australia, New Zealand

• Australasian Association for Clinical Biochemistry and Laboratory Medicine
  • Australasian guideline for the performance of sweat chloride testing 3rd edition: to support cystic fibrosis screening, diagnosis and monitoring [2025]

Austria

• Diagnostics
  • Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters [2021]

Canada

• Canadian Family Physician
  • Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results [2021]

• Journal of Cystic Fibrosis
  • The benefits of newborn screening for cystic fibrosis: The Canadian experience [2016]

• Pediatric Pulmonology
  • Variations in the Management of Canadian Patients With CFTR Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) [2025]

Croatia

• Biochemia Medica
  • National Guidelines for the Performance of the Sweat Test in Diagnosis of Cystic Fibrosis on behalf of the Croatian Society of Medical Biochemistry and Laboratory Medicine and the Cystic Fibrosis Centre - Paediatrics and adults, University Hospital Centre Zagreb [2022]

Europe

• European Cystic Fibrosis Society
  • ECFS best practice guidelines: the 2018 revision [2018]
  • European Cystic Fibrosis Society Standards of Care: Best Practice guidelines [2014]
  • A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis [2009]

• International Journal of Neonatal Screening
  • Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses [2020]
  • Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis [2020]

France

• Journal of Medical Screening
  • Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process [2018]

• Pediatric Pulmonology
  • Newborn Screening for Cystic Fibrosis Is Associated With the Lowest Healthcare Costs: A 10-Year Observational Follow-Up Study in France [2025]

Germany

• Deutsches Ärzteblatt International
  • Cystic Fibrosis [2017]

India

• Journal of Biosciences
  • Diagnosis and treatment of cystic fibrosis in India: What is at stake for developing countries? [2024]

International

• International Journal of Neonatal Screening
  • The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis [2020]
  • The Changing Face of Cystic Fibrosis and Its Implications for Screening [2020]
  • Psychological Impact of NBS for CF [2020]
  • Processing Newborn Bloodspot Screening Results for CF [2020]
  • Newborn Screening for CF across the Globe—Where Is It Worthwhile? [2020]
  • History of Newborn Screening for Cystic Fibrosis—The Early Years [2020]
  • Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis [2020]

• Journal of Cystic Fibrosis
  • Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening [2015]

Ireland

• European Journal of Human Genetics
  • National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years [2020]

• Journal of Cystic Fibrosis
  • Direct healthcare costs in the first 2 years of life: A comparison of screened and clinically diagnosed children with cystic fibrosis - The Irish comparative outcomes study of CF (ICOS) [2024]

Italy

• Pediatric Pulmonology
  • Critical Issues in the Management of CRMS/CFSPID Children: A National Real-World Survey [2025]

Macedonia

• Balkan Journal of Medical Genetics
  • Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience [2021]

Netherlands

• Journal of Cystic Fibrosis
  • Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands [2019]

New Zealand

• International Journal of Neonatal Screening
  • It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance [2020]

• Starship
  • Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID)
  • Cystic Fibrosis - Newborn Screening and Diagnostic Protocol

Poland

• Jornal de Pediatria
  • Clinical complications in children with false-negative results in cystic fibrosis newborn screening [2022]

Portugal

• International Journal of Neonatal Screening
  • Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies [2018]

Russia

• International Journal of Neonatal Screening
  • Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care [2020]

Spain

• Anales de Pediatría (English Edition)
  • Follow-up protocol of patients with cystic fibrosis diagnosed by newborn screening [2019]

Switzerland

• Deutsches Ärzteblatt International
  • One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland [2013]

• Journal of Cystic Fibrosis
  • Lung structural and functional impairments in young children with cystic fibrosis diagnosed following newborn screening - A nationwide observational study [2024]
  • Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis [2016]

Turkey

• Genes
  • Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey [2021]

United Kingdom

• International Journal of Neonatal Screening
  • A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis [2022]

• NHS England
  • Cystic fibrosis: screening laboratory handbook

• Public Health England
  • Newborn blood spot: managing positive results from cystic fibrosis screening
  • Cystic fibrosis: national clinical referral standard protocol

• Thorax
  • Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study [2020]

• UK National Screening Committee
  • Cystic fibrosis (newborn)

United States

• Cystic Fibrosis Foundation
  • Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation [2025]
  • Cystic fibrosis foundation position paper: Redefining the cystic fibrosis care team [2024]
  • Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID [2024]
  • Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020 [2023]
  • Outcomes of infants born during the first 9 years of CF newborn screening in the United States: A retrospective Cystic Fibrosis Foundation Patient Registry cohort study [2021]
  • Effects of Diagnosis by Newborn Screening for Cystic Fibrosis on Weight and Length in the First Year of Life [2017]
  • Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation [2017]
  • Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond [2009]
  • Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis [2009]
  • Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report [2008]
  • Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines [2007]

• Frontiers in Pediatrics
  • Early Diagnosis and Intervention in Cystic Fibrosis: Imagining the Unimaginable [2021]

• Genetics in Medicine
  • Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients [2017]

• International Journal of Neonatal Screening
  • Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States [2022]
  • Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors [2022]
  • Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening [2021]
  • Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion [2021]

• JAMA Pediatrics
  • Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes [2022]

• Journal of Cystic Fibrosis
  • Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening [2023]

• Life
  • Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening [2023]

• Pediatric Pulmonology
  • Cystic Fibrosis Year in Review 2024 [2025]
  • Cystic fibrosis year in review 2023 [2024]
  • Detection of disease-causing CFTR variants in state newborn screening programs [2023]

Western countries

• Journal of Cystic Fibrosis
  • International approaches for delivery of positive newborn bloodspot screening results for CF [2019]

{Related topics}

• Topic
  • Newborn
  • Neonatal screening
  • Cystic fibrosis: prenatal screening and diagnosis