Issue 3 (2022)

Summary

Articles

dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency
A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders
The Progress and Future of US Newborn Screening
Newborn Screening by Genomic Sequencing: Opportunities and Challenges
Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States
Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing
Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences
Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease
Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses
Psychological Impact of NBS for CF
Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders
Processing Newborn Bloodspot Screening Results for CF
Universal Implementation of Newborn Screening in India
The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis
A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations
CCHD Screening Implementation Efforts in Latin American Countries by the Ibero American Society of Neonatology (SIBEN)
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement
Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
Newborn Screening for CF across the Globe—Where Is It Worthwhile?
Determining Reference Ranges for Total T4 in Dried Blood Samples for Newborn Screening
Reducing False-Positive Results in Newborn Screening Using Machine Learning
Benzene Derivatives from Ink Lead to False Positive Results in Neonatal Hyperphenylalaninemia Screening with Ninhydrin Fluorometric Method
Max Wilson and the Principles and Practice of Screening for Disease
Universal Screening for CCHD in Saudi Arabia: The Road to a ‘State of the Art’ Program
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
The First Year Experience of Newborn Screening for Pompe Disease in California
Clinical Utility of Confirmatory Genetic Testing to Differentiate Sickle Cell Trait from Sickle-β+-Thalassemia by Newborn Screening
Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
Flow Cytometry Confirmation Post Newborn Screening for SCID in England
Newborn Screening Practices for Beta-Thalassemia in the United States
Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots
Targeted Secondary Screening for Congenital Hypothyroidism in High-Risk Neonates: A 9 Year Review in a Large California Health Care System
Family Perceptions of Newborn Cytomegalovirus Screening: A Qualitative Study
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing
DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis
Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption
Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns
Province-Wide Stool Color Card Screening for Biliary Atresia in Lower-Saxony: Experiences with Passive Distribution Strategies and Results
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening
Future Perspectives of Newborn Screening for Inborn Errors of Immunity
Establishing Newborn Screening for SCID in the USA: Experience in California
Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay