Training activity information
Details
Analyse, interpret and report the results of cases referred for abnormal scan findings, to include:
- QFPCR
- Microarray analysis
- Karyotyping
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
- Fetal anomaly screening programme (FASP) pathways
- Principles of the assay
- Best practice guidance
- Local and national guidance
- Quality control, including IQC, and EQA
- Nomenclature, including use of ISCN
- Interpretation of results
- Variant classification
- Reflex testing options
- Disease mechanism
- Test specific ethical issues
- Test sensitivity and limitations, including mosaicism, and maternal cell contamination
- Impact of confined placental mosaicism and fetal mosaicism on diagnosis
- Local SOPs
- Local format for reporting
- Health and safety
- Reporting of incidental findings including those independent of the referral reason, adult-onset conditions, and the implications for family members
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 |
Outcome
Apply appropriate testing strategies to patients referred following abnormal ultrasound scan findings. |
| # 4 |
Outcome
Interpret chromosomal rearrangements, including implications for recurrence risk and future testing. |
| # 5 |
Outcome
Interpret genomic variants, including copy number changes and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines. |
| # 6 |
Outcome
Interpret and report prenatal genomic findings, including appropriate recommendations for patient management. |