Training activity: 8

Details

Present three case studies for investigations that require the integration of molecular and cytogenetics laboratory techniques for full interpretation of prenatal genetic findings

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 contribution of different technologies to the overall result

Relevant learning outcomes

#	Outcome
# 1	Outcome Apply appropriate testing strategies to patients referred for increased screening risk.
# 2	Outcome Apply appropriate testing strategies to patients referred following abnormal ultrasound scan findings.
# 3	Outcome Apply appropriate testing strategies to patients with a family history of a genetic disorder.
# 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.