Training activity information

Details

Analyse, interpret and report the results of cell free DNA screening to include NIPT, and select appropriate reflex tests and prepare interpretive reports for a range of prenatal cases

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

  • The utility of non-invasive testing in prenatal screening
  • Principles of the assay
  • Best practice guidance
  • Local and national guidance
  • Quality control, including IQC and EQA
  • Nomenclature
  • Interpretation of results
  • Reflex testing options
  • Disease mechanism
  • Test sensitivity and limitations, including mosaicism, and maternal cell contamination
  • Impact of confined placental mosaicism, maternal mosaicism and fetal mosaicism on diagnosis
  • Local SOPs
  • Health and safety

Relevant learning outcomes

# Outcome
# 1 Outcome

Apply appropriate testing strategies to patients referred for increased screening risk.

# 4 Outcome

Interpret chromosomal rearrangements, including implications for recurrence risk and future testing.

# 6 Outcome

Interpret and report prenatal genomic findings, including appropriate recommendations for patient management.