Prenatal Genomics —
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.

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 have a strong understanding of a range of molecular (e.g., QFPCR, NGS) and cytogenetic (e.g., karyotyping, FISH) techniques, and how well do you understand how they complement each other to provide a full interpretation in prenatal diagnosis?
• How effectively can you identify cases where integrating data from different platforms is essential for accurate interpretation and risk assessment?
• Have you selected three relevant case studies where both molecular and cytogenetic techniques were used, and have you thoroughly reviewed the findings to plan how you will highlight the added value of each technique?
• What steps have you taken to ensure your case presentation will be clear and informative, and have you discussed your chosen cases and approach with your training officer to gain feedback?
• How have you prepared for the presentation by considering potential questions the audience might have and determining how you will address them?

In action

• How are you currently structuring and delivering your presentation of these integrated case studies. What key points are you emphasizing regarding the necessity of using both molecular and cytogenetic techniques for accurate interpretation?
• What decisions are you making right now as you present the information? For instance, how are you deciding on the level of detail to include for each technique and result? How are you ensuring a logical flow of information that highlights the complementary nature of the different approaches?
• How effectively are your current communication strategies conveying the importance of integrating different laboratory techniques in these specific prenatal cases?
• What challenges are you encountering in this moment, such as managing your time effectively, explaining complex concepts in a simple manner, or keeping the audience engaged?
• What can you learn from the audience’s reactions and questions as the presentation unfolds? Are there any areas where your explanation could be clearer or where further information is needed?
• If the audience seems confused about a particular point, what alternative ways could you explain the concept or result? Could you use visual aids or analogies?
• What immediate adjustments might you need to make to your presentation based on the audience’s level of understanding or their specific interests?
• Are you ensuring that your presentation clearly demonstrates the added value of integrating molecular and cytogenetic findings for accurate prenatal genetic interpretation and reporting?

On action

• Begin by summarising the key aspects of the three case studies you presented, highlighting how the integration of molecular and cytogenetics techniques was crucial for interpretation.
  • What specific techniques were used in each case? What were the main challenges in interpreting the findings for each case?
  • How did you structure your presentation to effectively communicate the complexity and the integrated approach?
• What skills or knowledge did you develop or improve in integrating molecular and cytogenetics data for interpretation?
  • What did you learn about presenting complex technical information?
  • Were there any unexpected challenges or successes during the activity?
  • What did you learn from these, such as effectively explaining technical details to a non-specialist audience or handling questions about the cases?
• What areas for continued development have been identified as a result of this activity, such as improving your presentation skills or your understanding of specific integrated testing strategies?
  • How can you apply the learning from this activity to future presentations or case discussions?
  • What actions will you now take, such as seeking feedback on your presentation style or reviewing literature on integrated prenatal testing approaches?
  • What support or resources might you need to further develop in the areas identified through this reflection, such as presentation skills workshops or access to examples of integrated case reports?

Beyond action

• Have you revisited the experience of presenting case studies that integrated molecular and cytogenetics laboratory techniques? Consider how your understanding of the interplay between molecular and cytogenetic findings in prenatal diagnosis has deepened since this presentation.
• Reflect on your initial approach to structuring and delivering these case studies. What aspects of your presentation skills have you subsequently developed?
• Review your reflections on this training activity as part of a module review. What key lessons did you learn about effectively communicating complex prenatal genetic findings?
• Have you received feedback on subsequent presentations that has helped you to further refine your communication strategies for integrated genomic data?
• Recognise how preparing and delivering these case studies has contributed to your ability to integrate diverse genomic data for comprehensive interpretation. How has your confidence in presenting complex information to different audiences evolved?
• How have you applied the skills developed during this activity in multidisciplinary team meetings or other professional discussions involving prenatal cases?
• Define specific actions for further developing your presentation and communication skills in the context of prenatal genomics, such as seeking opportunities to present at departmental meetings or conferences.

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.