Training activity information
Details
Analyse and interpret the results of QFPCR used for prenatal cases referred due to an increased screening risk, select appropriate reflex tests and prepare interpretive reports
Type
Entrustable training activity (ETA)
Evidence requirements
Evidence the activity has been undertaken by the trainee repeatedly, consistently, and effectively over time, in a range of situations. This may include occasions where the trainee has not successfully achieved the outcome of the activity themselves. For example, because it was not appropriate to undertake the task in the circumstances or the trainees recognised their own limitations and sought help or advice to ensure the activity reached an appropriate conclusion.
Reflection at multiple timepoints on the trainee learning journey for this activity.
Considerations
- The role of the biochemical screening during pregnancy
- The scientific basis of Down’s/Patau’s/Edwards’ syndrome 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 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. |