Issue 2 (2024)

Summary

Articles

The Psychosocial Impact of Congenital Cytomegalovirus on Caregivers and Families: Lived Experiences and Review of the Literature
Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
Implementation of Newborn Hearing Screening in Albania
Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion
Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand
Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation
Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
Newborn Screening in a Pandemic—Lessons Learned
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic
Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care
A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey
Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease
Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories
A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease
Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy
Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020
Newborn Screening Is on a Collision Course with Public Health Ethics
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
Developing an Online Dashboard to Visualize Performance Data—Tennessee Newborn Screening Experience
Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study
Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service
Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA
Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
Newborn Screening: Current Status in Alberta, Canada
Factors Influencing Parental Awareness about Newborn Screening
Development of National Newborn Screening Quality Indicators in the United States
Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia
Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT
The Reliable, Automatic Classification of Neonates in First-Tier MALDI-MS Screening for Sickle Cell Disease
Newborn Sickle Cell and Thalassaemia Screening Programme: Automating and Enhancing the System to Evaluate the Screening Programme
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report
Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil
CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia
Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy
Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling
Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand
Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK
One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening
Charting the Course: Towards a Comprehensive Newborn Screening Program in India
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening
Economic Rationality in Decision-Making Regarding Newborn Screening: A Case Study in Quebec
Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review