Issue 1 (2022)

Summary

Articles

First Year of TREC-Based National SCID Screening in Sweden
Christina Göngrich,Olov Ekwall,Mikael Sundin,Nicholas Brodszki,Anders Fasth,Per Marits,Sam Dysting,Susanne Jonsson,Michela Barbaro,Anna Wedell,Ulrika von Döbeln andRolf H. Zetterström
Advances in the Diagnosis and Treatment of Krabbe Disease
David A Wenger,Paola Luzi andMohammad A. Rafi
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience
Hind Alsharhan,Amir A. Ahmed,Naser M. Ali,Ahmad Alahmad,Buthaina Albash,Reem M. Elshafie,Sumaya Alkanderi,Usama M. Elkazzaz,Parakkal Xavier Cyril,Rehab M. Abdelrahman,Alaa A. Elmonairy,Samia M. Ibrahim,Yasser M. E. Elfeky,Doaa I. Sadik,Sara D. Al-Enezi,Ayman M. Salloum,Yadav Girish,Mohammad Al-Ali,Dina G. Ramadan,Rasha Alsafi
Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
Rachel Mador-House,Zaiping Liu andSarah Dyack
Implementation of SCID Screening in Denmark
Marie Bækvad-Hansen,Dea Adamsen,Jonas Bybjerg-Grauholm andDavid Michael Hougaard
Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
Vanessa Luiza Romanelli Tavares,Frederico Monfardini,Naila Cristina Vilaça Lourenço,Katia Maria da Rocha,Karina Weinmann,Rita Pavanello andMayana Zatz
Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists
Mirjam van der Burg
Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms
Ralph Fingerhut
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
Allan Meldgaard Lund,Flemming Wibrand,Kristin Skogstrand,Marie Bækvad-Hansen,Niels Gregersen,Brage Storstein Andresen,David M. Hougaard,Morten Dunø andRikke Katrine Jentoft Olsen
Establishing a National Community of Practice for Newborn Screening Follow-Up
Erin Darby,John Thompson,Carol Johnson,Sikha Singh andJelili Ojodu
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening
Alexander Asamoah,Sainan Wei,Kelly E. Jackson,Joseph H. Hersh andHarvey Levy
Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number
by Binod Kumar,Samantha Barton,Jolanta Kordowska,Roger B. Eaton,Anne M. Counihan,Jaime E. Hale andAnne Marie Comeau
Newborn Screening for SCID: Experience in Spain (Catalonia)
Ana Argudo-Ramírez,Andrea Martín-Nalda,Jose Manuel González de Aledo-Castillo,Rosa López-Galera,Jose Luis Marín-Soria,Sonia Pajares-García,Mónica Martínez-Gallo,Marina García-Prat,Roger Colobran,Jacques G. Riviere,Yania Quintero,Tatiana Collado,Antonia Ribes,Judit García-Villoria andPere Soler-Palacín
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
Tomokazu Kimizu,Shinobu Ida,Kentaro Okamoto,Hiroyuki Awano,Emma Tabe Eko Niba,Yogik Onky Silvana Wijaya,Shin Okazaki,Hideki Shimomura,Tomoko Lee,Koji Tominaga,Shin Nabatame,Toshio Saito,Takashi Hamazaki,Norio Sakai,Kayoko Saito,Haruo Shintaku,Kandai Nozu,Yasuhiro Takeshima,Kazumoto Iijima,Hisahide Nishio
Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan
Yosuke Shigematsu,Miori Yuasa,Nobuyuki Ishige,Hideki Nakajima andGo Tajima
Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles
Michael F. Cogley,Amy E. Wiberley-Bradford,Sean T. Mochal,Sandra J. Dawe,Zachary D. Piro andMei W. Baker
Neonatal Screening for SCID: The French Experience
Marie Audrain andCaroline Thomas
The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey
Norma-Jean Simon,Anne Atkins,Brianne Miller,Natasha Bonhomme andBeth Tarini
Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation
Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening
The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts
Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant
Newborn Screening for Congenital Hypothyroidism in Japan
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families
Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines
First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
Re-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study
Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
The First Treatment for PKU: The Pioneers—Birmingham 1951
Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan
IJNS Turns Seven—High Impact for Neonatal Screening
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Informing Parents about Newborn Screening: A European Comparison Study
Perspectives on Building Sustainable Newborn Screening Programs for Sickle Cell Disease: Experience from Tanzania
Newborn Screening for CAH—Challenges and Opportunities
Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant
The Impact of Seasonal Changes on Thyroxine and Thyroid-Stimulating Hormone in Newborns
Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review
Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations
Robert Guthrie and the Trials and Tribulations of Newborn Screening
Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2020
Ethical Issues Surrounding Newborn Screening
Ethical and Psychosocial Implications of Genomic Newborn Screening
Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement
The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review
The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism
Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration
Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives
Newborn Screening for Pompe Disease: Pennsylvania Experience
A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature
Development of Strategies to Decrease False Positive Results in Newborn Screening
Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism
Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns
Translating Molecular Technologies into Routine Newborn Screening Practice
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II
Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
We All Have a Role to Play: Redressing Inequities for Children Living with CAH and Other Chronic Health Conditions of Childhood in Resource-Poor Settings
Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials
Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Value and Unique Challenges in Developing Regions
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
CAH Newborn Screening in India: Challenges and Opportunities
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy
Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries
The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease
Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
The Early History of PKU
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency
Establishing Pompe Disease Newborn Screening: The Role of Industry
The Changing Face of Cystic Fibrosis and Its Implications for Screening
Pulse Oximetry and Congenital Heart Disease Screening: Results of the First Pilot Study in Morocco
Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Referral and Lost to System Rates of Two Newborn Hearing Screening Programs in Saudi Arabia
Considerations for Newborn Screening for Critical Congenital Heart Disease in Low- and Middle-Income Countries
Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation
It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis