Neonatology

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Neonatal screening

Australia

• European Journal of Human Genetics
  • Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready? [2023]

• Frontiers in Public Health
  • Review of Current International Decision-Making Processes for Newborn Screening: Lessons for Australia [2015]

Bahrain

• Advances in Hematology
  • Newborn Screening Services in Bahrain between 1985 and 2010 [2012]

Brazil

• Ciência & Saúde Coletiva
  • Prevalence of neonatal screening and associated factors in Brazil: a comparison of the 2013 and 2019 National Health Surveys [2024]

• Jornal de Pediatria
  • Neonatal screening tests in Brazil: prevalence rates and regional and socioeconomic inequalities [2019]

Canada

• Canadian Paediatric Society
  • Genetic testing and screening in children [2022]

China

• International Journal of Neonatal Screening
  • National Program for External Quality Assessment of Chinese Newborn Screening Laboratories [2020]

• JAMA Network Open
  • Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening [2023]

• Journal of Genetics and Genomics
  • Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China [2021]

• World Journal of Pediatrics
  • A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China [2023]

Denmark

• International Journal of Neonatal Screening
  • Use of Molecular Genetic Analyses in Danish Routine Newborn Screening [2021]
  • Implementation of SCID Screening in Denmark [2021]

Developing countries

• Frontiers in Immunology
  • Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries [2020]

Europe

• European Society for Immunodeficiencies
  • European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia [2024]

• European Society of Human Genetics
  • Regulatory landscape of providing information on newborn screening to parents across Europe [2021]

• International Journal of Neonatal Screening
  • Towards Achieving Equity and Innovation in Newborn Screening across Europe [2022]
  • Informing Parents about Newborn Screening: A European Comparison Study [2021]

• International Society for Neonatal Screening
  • Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 [2021]

France

• International Journal of Neonatal Screening
  • Neonatal Screening for SCID: The French Experience [2021]

Germany

• Deutsches Ärzteblatt International
  • Target Diseases for Neonatal Screening in Germany [2022]
  • Newborn Screening: Still Room for Improvement [2021]
  • Neonatal Screening for Congenital Metabolic and Endocrine Disorders - Results From Germany for the Years 2006–2018 [2021]

• Institute for Quality and Efficiency in Health Care
  • Screening for vitamin B12 deficiency and other target diseases (homocystinuria, propionic acidaemia and methylmalonic aciduria) in extended newborn screening (ENS) [2024]

• Journal of Clinical Immunology
  • Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API) [2023]

High-income countries

• JAMA Network Open
  • Principles of Genomic Newborn Screening Programs: A Systematic Review [2021]

Honduras

• Journal of Community Genetics
  • Neonatal screening program for five conditions in Honduras [2021]

India

• Indian Journal of Endocrinology and Metabolism
  • Need for neonatal screening program in India: A national priority [2015]

• International Journal of Neonatal Screening
  • Universal Implementation of Newborn Screening in India [2020]

International

• Association of Public Health Laboratories
  • 2023 APHL/ISNS Newborn Screening Symposium [2023]

• European Society of Human Genetics
  • Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes [2015]

• International Journal of Neonatal Screening
  • Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023) [2024]
  • Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm [2023]

• International Society for Neonatal Screening
  • Guidelines

• Journal of Allergy and Clinical Immunology
  • Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency [2022]

Ireland

• Health Information and Quality Authority
  • HTA of the addition of severe combined immunodeficiency (SCID) to the National Newborn Bloodspot Screening Programme [2023]
  • Processes in use to inform the expansion of newborn bloodspot screening programmes [2021]

Israel

• International Journal of Neonatal Screening
  • Newborn Screening for Severe Combined Immunodeficiency in Israel [2017]

• Journal of Allergy and Clinical Immunology: In Practice
  • A Spot of Good News: Israeli Experience With SCID Newborn Screening [2022]

Italy

• Annali dell'Istituto Superiore di Sanità
  • Newborn screening in Italy: a unique program of public health in Europe [2023]

• Italian Journal of Pediatrics
  • Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant [2017]

Latin America

• International Journal of Neonatal Screening
  • Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations [2021]

Malaysia

• Frontiers in Immunology
  • Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia [2024]

Netherlands

• Frontiers in Pediatrics
  • Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions With Stakeholders [2021]

• Health Council of the Netherlands
  • A framework for evaluating long-term impact of newborn screening [2024]
  • The case for screening in early life for 'non-treatable' disorders: ethics, evidence and proportionality. A report from the Health Council of the Netherlands [2022]

• International Journal of Neonatal Screening
  • Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program [2018]

New Zealand

• Starship
  • Red reflex screening assessment in newborns and infants [2022]

Norway

• International Journal of Neonatal Screening
  • Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses [2020]

Oman

• Oman Medical Journal
  • Newborn Screening Program for Oman: The Time is Here and Now [2012]

Pakistan

• Orphanet Journal of Rare Diseases
  • Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan [2020]

Philippines

• International Journal of Neonatal Screening
  • Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement [2020]

Qatar

• Qatar Medical Journal
  • Universal neonatal hearing screening: Six years of experience in Qatar [2013]

Singapore

• Frontiers in Immunology
  • Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth [2022]

Slovakia

• International Journal of Neonatal Screening
  • The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group [2017]

Slovenia

• Slovenian Journal of Public Health
  • Newborn Screening in Slovenia [2015]

South-Eastern Europe

• Frontiers in Pediatrics
  • Current Status of Newborn Screening in Southeastern Europe [2021]

Sweden

• International Journal of Neonatal Screening
  • First Year of TREC-Based National SCID Screening in Sweden [2021]

Switzerland

• Swiss Medical Weekly
  • Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay – management recommendations [2020]

Taiwan

• International Journal of Neonatal Screening
  • Newborn Screening for Severe Combined Immunodeficiency in Taiwan [2017]

• Neurological Sciences
  • Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan [2022]

• Pediatrics and Neonatology
  • The modern face of newborn screening [2023]

Ukraine

• Frontiers in Immunology
  • Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates [2022]

United Kingdom

• BMJ Open
  • Processing of positive newborn screening results: a qualitative exploration of current practice in England [2020]

• Health Technology Assessment
  • Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation [2024]

• HSC Public Health Agency
  • Newborn Blood Spot Screening in Northern Ireland Annual Reports

• NHS England
  • Newborn screening: communication pathways following bereavements
  • Newborn blood spot screening pathway requirements
  • Newborn and infant physical examination: programme handbook
  • Newborn and infant physical examination: annual learning framework
  • Newborn and infant physical examination screening: standards
  • Newborn and infant physical examination screening pathway requirements specification
  • NHS newborn blood spot (NBS) screening programme

• NHSGGC
  • Newborn Blood Spot Screening

• Public Health England
  • Newborn blood spot screening: sampling guidelines
  • Newborn blood spot screening: data and research
  • Newborn blood spot screening: care pathway
  • Newborn blood spot screening: avoidable repeat tests
  • Newborn and infant physical screening: quality improvement
  • Newborn and infant physical examination: clinical guidance

• UK National Screening Committee
  • SCID
  • Fatty-acid oxidation disorders
  • Duchenne muscular dystrophy
  • Congenital cataracts

United States

• American College of Obstetricians and Gynecologists
  • Newborn Screening and the Role of the Obstetrician-Gynecologist [2019]

• American Journal of Medical Genetics Part C: Seminars in Medical Genetics
  • Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics [2022]
  • Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care [2022]

• Annals of Translational Medicine
  • Newborn screening and changing face of inborn errors of metabolism in the United States [2018]

• Association of Women's Health, Obstetric and Neonatal Nurses
  • Newborn Screening [2022]

• BMC Pediatrics
  • Preparing newborn screening for the future: a collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening system [2022]

• Centers for Disease Control and Prevention
  • CDC Grand Rounds: Newborn Screening and Improved Outcomes [2012]
  • Newborn Screening

• Frontiers in Immunology
  • The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices [2020]

• Frontiers in Public Health
  • Assessing interstate racial and socioeconomic disparities in newborn screening policies in the United States [2024]

• Genetics in Medicine
  • The Limited Use of U.S Residual Newborn Screening Dried Bloodspots for Health Disparity Research [2020]
  • A framework for key considerations regarding point-of-care screening of newborns [2012]

• International Journal of Neonatal Screening
  • Establishing a National Community of Practice for Newborn Screening Follow-Up [2021]
  • Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences [2020]
  • Development of National Newborn Screening Quality Indicators in the United States [2019]
  • Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations [2018]
  • Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance [2018]
  • Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management [2017]
  • A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy [2017]

• JAMA
  • Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States [2014]

• JAMA Network Open
  • Perspectives of Rare Disease Experts on Newborn Genome Sequencing [2023]
  • Expert Evaluation of Strategies to Modernize Newborn Screening in the United States [2021]

• Molecular Diagnosis & Therapy
  • A Window of Opportunity for Newborn Screening [2022]

• Molecular Genetics and Metabolism
  • A framework for assessing outcomes from newborn screening: on the road to measuring its promise [2016]

• National Academies of Sciences, Engineering, and Medicine
  • The Promise and Perils of Next-Generation DNA Sequencing at Birth: Proceedings of a Workshop—in Brief [2023]

• National Institute of Child Health and Human Development
  • Newborn Screening

• NewSTEPs
  • NewSTEPs

• Pediatrics
  • Newborn Sequencing in Genomic Medicine and Public Health [2017]
  • Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs [2016]

• PLoS ONE
  • Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository [2020]

Uruguay

• Journal of Community Genetics
  • Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm [2015]

WHO South-East Asia Region

• WHO South-East Asia Region
  • Universal newborn screening: Implementation guidance [2024]

{Related topics}

• Topic
  • Retinopathy of prematurity
  • Prenatal screening and diagnosis
  • Newborn
  • Neonatal thyroid disorders, congenital hypothyroidism
  • Neonatal hypoglycemia
  • Neonatal hematologic disorders
  • Neonatal hearing loss
  • Neonatal cardiovascular diseases
  • Inborn errors of metabolism
  • Developmental dysplasia of the hip
  • Cystic fibrosis
  • Birth defects