Issue 1 (2023)

Summary

Articles

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
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
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
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
Editorial for Special Issue “Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies”
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
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows
Postponement of the Newborn Hearing Screening during the COVID-19 Pandemic; Parental Experiences and Worries
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
History of Neonatal Screening of Congenital Hypothyroidism in Portugal
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences