Newborn Screening Practitioner's Manual

COVER PAGE |

TABLE OF CONTENTS |

INTRODUCTION |

MEDICAL PROGRAM FOLLOW-UP AND CONSULTANTS |

SCREENING TESTS

• AMINO ACID DISORDERS (PKU, MSUD, HCY, TYR I, ASA & CIT)
• Introduction
• Amino Acid Disorders Screened in Kansas
• Clinical Features
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
• Screening Practice Considerations
• Medical Consultant
• Overview of Follow-up Procedure
• Amino Acid Disorder ACT Sheets
• Amino Acid Disorder Algorithms
• Low Risk Physician’s Letter Example
• Moderate Risk Physician’s Letter Example
• High Risk Physician’s Letter Example
• Physician’s Reporting Form Examples
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• BIOTINIDASE DEFICIENCY (BIOT)
• Introduction
• Clinical Features
• Causes of Biotinidase Deficiency
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
• Screening Practice Considerations
• Medical Consultant
• Overview of Follow-up Procedure
• ACT Sheet
• Algorithm
• Presumptive Physician’s Letter Example
• Physician’s Reporting Form Example
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• CONGENITAL ADRENAL HYPERPLASIA (CAH)
• Introduction
• Clinical Features
• Causes of Congenital Adrenal Hyperplasia
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
• Medical Consultants
• Overview of Follow-Up Procedure
• ACT Sheet
• Algorithm
• Borderline Physician’s Letter Example
• Presumptive Physician’s Letter Example
• Physician’s Reporting Form Example
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• CONGENITAL HYPOTHYROIDISM (CH or HYPOTH)
• Introduction
• Clinical Features
• Causes of Congenital Hypothyroidism
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
• Screening Practice Considerations
• Medical Consultants
• Overview of Follow-Up Procedure
• ACT Sheet
• Algorithm
• Borderline Physician’s Letter Example
• Presumptive Physician’s Letter Example
• Physician’s Reporting Form Example
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• CYSTIC FIBROSIS (CF)
• Introduction
• Clinical Features
• Causes of Cystic Fibrosis
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
• Screening Practice Considerations
• Medical Consultants
• Overview of Follow-Up Procedure
• ACT Sheet
• Algorithm
• Initial Positive Physician’s Letter Example
• Repeat Positive Physician’s Letter Example
• Physician’s Reporting Form Example
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• FATTY ACID OXIDATION DISORDERS (MCADD, VLCAD, LCHADD, TFP & CUD)
• Introduction
• Fatty Acid Oxidation Disorders Screened in Kansas
• Clinical Features
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
• Screening Practice Considerations
• Medical Consultant
• Overview of Follow-up Procedure
• Fatty Acid Oxidation Disorder ACT Sheets
• Fatty Acid Oxidation Disorder Algorithms
• Low Risk Physician’s Letter Example
• Moderate Risk Physician’s Letter Example
• High Risk Physician’s Letter Example
• Physician’s Reporting Form Examples
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• GALACTOSEMIA (GALT)
• Introduction
• Clinical Features
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
  
• Screening Practice Considerations
• Medical Consultants
• Overview of Follow-Up Procedure
• ACT Sheet
• Algorithm
• Borderline Physician’s Letter Example
• Presumptive Physician’s Letter Example
• Physician’s Reporting Form Example
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• HEMOGLOBINOPATHIES
• Introduction
• Clinical Features
• Laboratory Tests
• Confirmatory Testing
• Treatment
• Carrier Detection
• Screening Practice Considerations
• Infant Transfusion
• Medical Consultants
• Follow-Up Procedure
• Inheritance Patterns
• ACT Sheets
• Algorithm
• Physician's Letter Example - Hgb Traits
• Physician's Letter Example - Hgb Disease
• Physician's Reporting Form Example
• Information for Healthcare Providers
• Parent Letter Example - Hgb Traits
• Parent Letter Example - Hgb Disease
• Information for Parents

• ORGANIC ACID DISORDERS (IVA, GA-1, HMG, MCD, MUT, Cbl A&B, 3MCC, PROP & BKT)
• Introduction
• Clinical Features
• Causes of Organic Acid Disorders
• Laboratory Screening Tests
• Confirmatory Testing
• Treatment
• Screening Practice Considerations
• Medical Consultants
• Overview of Follow-up Procedure
• ACT Sheets
• Algorithms
• Low Risk Physician’s Letter Example
• Moderate Risk Physician’s Letter Example
• High Risk Physician’s Letter Example
• Physician’s Reporting Forms
• Information for Healthcare Providers
• Parent Letter Example
• Information for Parents

• PHENYLKETONURIA (PKU)
• Introduction
• Clinical Features
• Laboratory Tests
• Confirmatory Testing
• Treatment
• Screening Practice Considerations
• Variant Forms of PKU
• Maternal PKU and Hyperphenylalaninemia
• Medical Consultants
• Overview of Follow-Up Procedure
• Follow-Up Flow Chart
• ACT Sheet
• Algorithm
• Low Risk Physician’s Letter
• Moderate Risk Physician’s Letter
• High Risk Physician’s Letter
• Physician’s Reporting Form
• Information for Healthcare Providers
• Parent Letter
• Information for Parents

• SPECIAL HEALTH SERVICES
• Services Available – General Information
• Eligibility
• Services for Newborn Screening Disorders

• SCREENING PRACTICES
• Screening Kit Information
• Completion of the Form
• Sample Screening Kit
• Timing of Testing
• Obtaining the Specimen
• Mailing Instructions
• Reporting of Results
• Reporting and Follow-up of “Presumptive” Results
• Problems in Screening Practices
• Testing Before Discharge
• Protein and Lactose Ingestion Prior to Testing
• Testing Before Transfer of Infant to Another Unit
• Completion of the Form
• Transfusions
• Infants Who Are Never Tested
• Specimen Inadequacy
• Parent Refusal of Testing

• APPENDICES
   
1. Kansas Law Pertaining to Newborn Screening - House Bill No. 2255
2. Kansas Newborn Screening Regulations
3. Sample Parent Refusal Form
4. Screening the Critically Ill and Premature Infant
5. Kansas Newborn Screening Brochure
• Newborn Screening Program Brochure - English
• El programa para la examinación de los bebes recién nacidos - en Español
6. Kansas Newborn Screening Collection Form
7. Newborn Screening Specimen Collection Technique
8. Unsatisfactory Specimen Codes