Training activity information

Details

Interpret and report the results of newborn screens, including examples of both negative and positive cases for three of the following conditions:

  • Phenylketonuria (PKU)
  • Congenital hypothyroidism
  • MCADD
  • Cystic fibrosis (CF)
  • GA1
  • MSUD
  • IVA
  • Homocystinuria

Type

Developmental training activity (DTA)

Evidence requirements

Evidence the activity has been undertaken by the trainee​.

Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.

An action plan to implement learning and/or to address skills or knowledge gaps identified.

Considerations

  • Method selection, including assay advantages and limitations, quality parameters, and interferences
  • Equipment calibration and maintenance
  • Quality control; EQA and IQC
  • National and international guidelines
  • National newborn screening Programme standards
  • Role of the screening biochemist
  • Report formats

Relevant learning outcomes

# Outcome
# 5 Outcome

Evaluate the methodology and rationale of national screening programmes and explain the national standards associated with the trisomy and newborn screening programmes.

# 7 Outcome

Discuss the psychosocial impact of testing in the antenatal and newborn screening programmes.