Prenatal Genomics —
Training activity: 4

Details

Analyse, interpret and report the results of cases referred for abnormal scan findings, as examples:

• 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.

Reflective practice guidance

The guidance below is provided to support reflection at different time points, providing you with questions to aid you to reflect for this training activity. They are provided for guidance and should not be considered as a mandatory checklist. Trainees should not be expected to provide answers to each of the guidance questions listed.

Before action

• Do you understand the principles, advantages, and limitations of QFPCR, microarray analysis, and karyotyping in the prenatal setting?
• What types of abnormalities can each technique detect? How can you integrate results from multiple investigations?
• What do you need to know about clinical significance of common findings associated with abnormal scans?
• Have you reviewed the principles and applications of QFPCR, microarray, and karyotyping in prenatal diagnosis?
• Have you familiarised yourself with examples of abnormal scan findings and the typical genetic investigations that follow?
• Have you discussed potential case scenarios with your training officer, including how to handle challenging or unexpected results?
• Consider how you will ensure your report is clear and addresses the clinical question raised by the abnormal scan.

In action

• What are the specific steps you are currently taking to analyse and interpret the results from QFPCR, microarray analysis, and/or karyotyping performed on cases with abnormal ultrasound findings? What specific data points or patterns are you focusing on, and why?
• What key decisions are you making right now as you evaluate the data from each technique? For instance, how are you determining the significance of a particular copy number variant (CNV) identified by microarray or an aneuploidy detected by QFPCR? How are you assessing a karyotype for structural or numerical abnormalities?
• How effectively are your chosen methods allowing you to identify and characterise any relevant genomic abnormalities that could explain the abnormal scan findings?
• What challenges are you encountering in this moment, such as interpreting variants of uncertain significance (VUS), resolving discrepancies between different testing methods, or identifying mosaicism?
• Are there any unexpected findings or combinations of results that require further investigation or consideration?
• If your initial analysis yields ambiguous or conflicting results, what alternative strategies could you employ to clarify the findings? Could you review the original scan findings, request further information, or consider additional testing?
• Do you need to seek immediate clarification or advice on any unusual patterns or results you are observing that deviate from expected findings or established guidelines?
• Are you ensuring that your interpretation aligns with the clinical information provided with the referral and considers the potential implications of the identified abnormalities for diagnosis and prognosis?

On action

• Begin by summarising the key findings from the QFPCR, microarray analysis, and/or karyotyping results you analysed in cases with abnormal ultrasound findings.
  • What were the specific chromosomal or genomic abnormalities identified (if any)?
  • What were the key features of the abnormal scan findings that prompted the referral?
  • How did the different testing methodologies (QFPCR, microarray, karyotyping) contribute to the overall interpretation?
• What skills or knowledge did you develop or improve in analysing and interpreting results from QFPCR, microarray, and karyotyping in the context of abnormal scan findings?
  • Were there any unexpected challenges or successes during the activity?
  • What did you learn from these, such as discrepancies between different test results or difficulties in determining the clinical significance of certain findings?
• What areas for continued development have been identified as a result of this activity, such as improving your understanding of specific cytogenetic or copy number abnormalities associated with ultrasound findings?
  • How can you apply the learning from this activity to your routine practice when interpreting results for cases with abnormal scans?
  • What actions will you now take to develop further, such as reviewing the clinical significance of specific CNVs or karyotype abnormalities.
  • What support or resources might you need to further develop in the areas identified through this reflection, such as access to databases of genotype-phenotype correlations?

Beyond action

• Have you revisited the experiences of analysing, interpreting, and reporting results for cases with abnormal ultrasound findings using QFPCR, microarray, and karyotyping?
• Compare your initial approach to integrating results from different technologies (QFPCR, microarray, karyotype) with your current methodology.
• Revisit your reflections on interpreting abnormal scan findings. What overarching lessons have you learned about this referral reason?
• Have discussions with colleagues about challenging cases involving abnormal scans and the application of these different genomic tests changed your approach to interpretation?
• How has your skill in integrating data from different platforms improved?
• How have you applied the knowledge gained from interpreting QFPCR, microarray, and karyotyping in subsequent cases with similar presentations?
• How has your understanding of the correlation between ultrasound findings and genomic abnormalities evolved?
• Reflect on how your learning from this training activity informs your preparation for assessments involving the interpretation of complex prenatal genomic data.
• Define specific actions for further developing your expertise in interpreting genomic findings associated with abnormal prenatal scans, potentially including focusing on specific types of anomalies.

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.