Issue 2 (2022)

Summary

Articles

The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing
Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs
Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity
Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience
A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
Towards Achieving Equity and Innovation in Newborn Screening across Europe
Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges
COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance
Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
Early Development of Newborn Screening for HCU and Current Challenges
Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation
Processing of Positive Newborn Screening Results for Congenital Hypothyroidism: A Qualitative Exploration of Current Practice in England
Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data
Need and Viability of Newborn Screening Programme in India: Report from a Pilot Study
Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic
Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
Delivering Positive Newborn Screening Results: Cost Analysis of Existing Practice versus Innovative, Co-Designed Strategies from the ReSPoND Study
Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
Analytical Validation of Familial Hypercholesterolemia Biomarkers in Dried Blood Spots
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy
Genomics and Newborn Screening: Perspectives of Public Health Programs
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II
Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry
Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic
Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
Study Design for an Evaluation of Newborn Screening for SCID in the UK
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
Newborn Screening for Pompe Disease