Newborn Screening Resources, Trainings and Events

• Overview of Cutoff Determinations and Risk Assessment Methods Used in Dried Blood Spot Newborn Screening - Role of Cutoffs and Other Methods of Data Analysis
• Residual Dried Blood Spot Specimens Educational Toolkit
  

• Emergency Preparedness for Newborn Screening Programs
• Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders

• Adding Conditions to State Newborn Screening Panels: Creating an Effective State Process
• Adding Conditions to State Newborn Screening Panels: Recommendations for Decision Makers
• Current New Disorder Checklist

New disorder resources and tools for:

• Guanidinoacetate Methyltransferase Deficiency
• Mucopolysaccharidosis Type II
• Krabbe Disease
• Other New Disorder Toolkits

• New Disorder LIMS Implementation Checklist 
• Core RUSP ICD-10 and SNOMED 
• Interoperability on Linking Vital Records and Newborn Screening Data Webinar 
• Interoperability on Linking Vital Records and Newborn Screening Data
• Newborn Screening Bioinformatics 101 Webinar
• Newborn Screening Interoperability Webinar
• Meaningful Use - Health Information Technology Basics

• Part 1: NewSTEPs Critical Congenital Heart Disease Webinar: The Importance of Building Relationships for HIT 
• Part 2: Critical Congenital Heart Disease (CCHD)/Health Information Technology (HIT) Joint Webinar

• Newborn Screening Health Information Technology Interviews Summary Report
• Technical Assistance Team Approach
• APHL Informatics Messaging Services (AIMS) Hub
• Building Blocks: Newborn Screening Health IT Implementation Guide and Toolkit
• Data Visualization: Newborn Screening Electronic Messaging
• Public Health Informatics Newborn Screening | Position Description Toolkit

Visit the Molecular Screening Resources page for more information about molecular technologies and associated training resources. Additional pages of interest include:

• Molecular Training Workshop
• Sequencing Decision Matrix

• History of Second-tier Testing in Newborn Screening 
• What is the Role of the Newborn Screening Program Moving Forward with Tiered Testing  
• Biochemical Second-tier Testing and Molecular Second- and Third-tier Testing Options and Consideration 
• Designing a Tiered Testing Strategy  

Visit the Hemoglobinopathies page for additional information about resources and upcoming events.

• Hemoglobinopathies: Current Practices for Screening, Confirmation and Follow-up
• Approaches to Molecular Testing in Newborn Screening for Hemoglobinopathies 
• Use of Molecular Methods in Hemoglobinopathies Screening: The Clinician Perspective
• Transfusion Confusion – Identifying Newborns that Have Been Transfused and What to Do About It
• Alpha Thalassemia: Clinical Aspects
• Clinical Presentation and Newborn Screening of Beta Thalassemia in the United States

• Implementation Considerations
  
• Clinical Aspects
  
• Overview of Available Screening Methods
  

• Spinal Muscular Atrophy Treatment and Outcomes
• Virtual Roundtable on States’ Experiences Screening for Spinal Muscular Atrophy
• Spinal Muscular Atrophy: Clinical Aspects, Diagnostics and Follow-Up Webinar
• Spinal Muscular Atrophy: Overview of Available Screening Methods

This five-day intensive workshop focuses on molecular assays for a variety of newborn disorders. Laboratory activities will focus on DNA extraction, PCR-based assays, including TREC qPCR and Sanger sequencing. Discussion topics will include methodologies and best laboratory practices in molecular testing, data analysis and interpretation, quality assurance and control issues.

This three-and-a-half day training supports newborn screening follow-up staff through interactive sessions on NBS processes, conditions, ethics, and education. Participants gain practical knowledge to strengthen engagement and follow-up practices.

This five-day course builds on foundational knowledge of newborn screening follow-up and metabolic biochemistry. Participants strengthen their interpretive skills and diagnostic follow-up for disorders detectable through MS/MS screening, including amino acid, urea cycle, fatty acid oxidation, and organic acid disorders.

This four-day intensive workshop offers a comprehensive introduction to newborn screening for hemoglobinopathies. The course includes hands-on exercises on isoelectric focusing (IEF), high-performance liquid chromatography (HPLC) and capillary electrophoresis to reinforce the concepts covered in the workshop's lectures.