Training activity: 1

Details

Select the correct genetic test(s) for the patient samples referred for prenatal testing referral reasons, to include:

• Increased screening risk
• Abnormal scan
• Familial testing

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

• Sample acceptance criteria
• Specific considerations for different prenatal samples, including sampling methods, gestational age, technical and analytical limitations
• Sample storage
• Reason for referral
• Testing pathways
• Local SOPs
• Health and safety
• Consent process
• Test specific ethical issues
• Onward referrals
• The role of multidisciplinary teams in the prenatal investigations following a familial history of genetic conditions
• The suitability of NIPD dependent on family structure, the genetic condition and the variant being investigated

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.