Obstetrics, gynecology, andrology, sexual and reproductive health

Neonatology

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Neonatal screening

 

Australia

• Australasian Medical Journal
  • Newborn bloodspot screening policy framework for Australia [2015]

• 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

• 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]

• Perinatal Services BC
  • Newborn Screening [2018]

China

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

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

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

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

Germany

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

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

• 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 Society for Neonatal Screening
  • Guidelines

• Journal of Allergy and Clinical Immunology
  • Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency [2021]

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]

Italy

• 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]

Netherlands

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

• 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]

Saudi Arabia

• Academic Journal of Pediatrics and Neonatology
  • Towards a Uniform Newborn Screening Panel in the Kingdom of Saudi Arabia [2018]

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

• Health Promotion Administration
  • Three Decades of Newborn Screening in Taiwan [2016]

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

United Kingdom

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

• GG&C Paediatric Guidelines
  • Newborn Blood Spot Screening

• Healthcare Improvement Scotland
  • Pregnancy and Newborn Screening: Newborn Bloodspot Standards [2019]

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

• Public Health England
  • Standards for NHS newborn blood spot screening
  • Newborn screening: communication pathways following bereavements
  • Newborn blood spot screening: standards
  • Newborn blood spot screening: sampling guidelines
  • Newborn blood spot screening: programme handbook
  • Newborn blood spot screening: data and research
  • Newborn blood spot screening: care pathway
  • Newborn blood spot screening: avoidable repeat tests
  • Newborn blood spot screening programme: supporting publications
  • Newborn blood spot screening pathway requirements specification
  • Newborn and infant physical screening: quality improvement
  • Newborn and infant physical examination: programme handbook
  • Newborn and infant physical examination: clinical guidance
  • Newborn and infant physical examination screening: standards
  • Newborn and infant physical examination screening pathway requirements specification
  • NHS newborn blood spot (NBS) screening programme
  • NHS newborn and infant physical examination (NIPE) screening programme

United States

• American Academy of Pediatrics
  • Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes Implications for the System [2008]

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

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

• 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]

• 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
  • Expert Evaluation of Strategies to Modernize Newborn Screening in the United States [2021]

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

• Newborn Screening Translational Research Network
  • Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN [2014]

• NewSTEPs
  • Resources
  • Quality Indicators
  • Disorders
  • Data Visualizations
  • Case Definitions

• North Carolina Medical Journal
  • Newborn Screening Policy Decisions [2019]

• 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]

{Related topics}

• Guidelines
  • 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