Issue 3 (2023)

Summary

Articles

Comparison between Gibson–Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis
Identifying Clinical Criteria for an Expanded Targeted Approach to Screening for Congenital Cytomegalovirus Infection—A Retrospective Study
Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process
Communicating a Positive Result at Newborn Screening and Parental Distress
A Qualitative Assessment of Clinical Practice Guidelines and Patterns for Congenital Cytomegalovirus in the United States
Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation
Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
Comparison of Overall Sensitivity and Specificity across Different Newborn Screening Algorithms for Congenital Cytomegalovirus
Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation
Newborn Screening for Fabry Disease: Current Status of Knowledge
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
Secondary Reporting of G6PD Deficiency on Newborn Screening
A Cross-Sectional Survey of Pediatric Infectious Disease Physicians’ Approach to Congenital Cytomegalovirus Infection
A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program
Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays
Implications of Genomic Newborn Screening for Infant Mortality
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency
Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
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