Training activity information
Details
Analyse, interpret and report the results for cases referred for prenatal exome analysis
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
- Ethical considerations for analysing exomes in prenatal samples
- Principles of the assay
- Best practice guidance
- Local and national guidance
- Quality control, including IQC, and EQA
- Nomenclature
- Interpretation of results
- Variant filtering
- Variant classification and reporting criteria
- 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
- 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. |
| # 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. |