Training activity: 4

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.