Prenatal Genomics —
Training activity: 6

Details

Analyse, interpret and report the results of appropriate additional tests to follow-up abnormal findings from invasive prenatal testing, to include:

• FISH
• Chromosome analysis

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

What are the intended outcomes of the training activity?

• Regarding the interpretation of chromosomal rearrangements, how do you plan to prepare for assessing the implications of a finding for both recurrence risk and the necessity of future testing (e.g., parental follow-up)?
• Regarding reporting prenatal findings, what are the critical elements you must include in a report to ensure that recommendations for patient management are clear, accurate, and actionable for the referring clinician?
• Regarding specialist knowledge, how will you apply your understanding of prenatal genomics to ensure that this reflex testing process contributes to a safe and high-quality service?
• What do you need to know before embarking on the activity? Consider the technical strengths and limitations of FISH versus chromosome analysis (karyotyping), the criteria for reflex testing in the National Genomic Test Directory, and the correct application of ISCN nomenclature for reporting rearrangements.

What do you anticipate you will learn from the experience?

• Consider the specific insights you hope to gain from engaging with these reflex tests. For example, are you interested in how to handle cases of suspected mosaicism or how to reconcile discordant results between rapid FISH and subsequent karyotyping?
• How does your foundational knowledge of cytogenetics and molecular biology provide a basis for interpreting complex chromosomal rearrangements in a prenatal diagnostic setting?

What actions will you take in preparation for the experience

• How will you gain a clear understanding of the local standard operating procedures (SOPs) for escalating abnormal invasive findings to reflex testing?
• What possible challenges do you anticipate facing during the activity—such as time-sensitive reporting pressures, limited sample availability, or the interpretation of a “de novo” versus an inherited rearrangement—and how have you planned to handle them?
• How do you feel about embarking on this training activity, and given that these results often provide definitive diagnoses for high-risk pregnancies, how are you preparing for the professional responsibility involved in reporting these findings?

In action

What are you doing?

• How are you currently approaching the analysis of FISH or chromosome results following the initial abnormal finding, and why have you chosen this specific technical workflow?
• What real-time decisions are you making regarding the interpretation of the chromosomal rearrangement—for example, how are you applying ISCN nomenclature as the results emerge?
• Which aspects of this reflex testing feel intuitive based on your previous experience, and which parts (such as identifying the implications for recurrence risk) require more conscious effort?

How are you progressing with the activity?

• How effective are your current actions in interpreting the chromosomal rearrangement and its implications for future testing?
• What technical or clinical challenges are you facing in the moment—such as poor chromosome quality or ambiguous FISH signals—and what are you learning from these as they unfold?
• How does this specific activity of following up abnormal invasive findings connect to your existing knowledge of cytogenetics and prenatal clinical pathways?
• How are you applying your specialist knowledge in the moment to ensure the investigation remains safe and high-quality?

How are you adapting to the situation?

• Are there alternative approaches or additional reflex tests (e.g., microarray) you should consider if the FISH or chromosome analysis does not fully resolve the clinical question?
• Do you need support or guidance from your Training Officer or a senior Clinical Scientist to confirm a complex rearrangement before drafting the report??
• As you draft recommendations for patient management, are you ensuring that your actions and interpretations remain strictly within your professional scope of practice?
• How are you adapting your approach to ensure that the delivery of these urgent prenatal findings meets the required high-quality service standards?

On action

What did you notice?

• Summarise the key points of the experience, specifically the technical and analytical steps you took to complete the reflex testing using FISH and chromosome analysis.
• What were the essential findings (e.g., the specific nature of the chromosomal rearrangement) and clinical details that most significantly influenced your final interpretation?

What did you learn from the activity?

• What specific skills or knowledge did you develop or improve regarding the interpretation of chromosomal rearrangements, particularly regarding the implications for recurrence risk and future testing?
• How has this experience improved your ability to report prenatal genomic findings and provide clear, actionable recommendations for patient management?
• Were there any unexpected challenges or successes encountered during the analysis—such as difficulties with sample quality, technical limitations of FISH, or interpreting complex rearrangements—and what did you learn from these?
• In what ways did your reflection-in-action (the real-time decisions you made while performing the analysis) influence how the activity unfolded and the quality of the final report?
• How does the experience of delivering a safe and high-quality prenatal genomic service relate to the professional requirements for your post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What specific areas for continued development in the follow-up of abnormal invasive findings have been identified as a result of this activity?
• How can you apply the learning from this specialist activity to your practice to ensure that genomic investigations are consistently safe and conducted to a high standard?
• Identify the specific actions you will now take—such as further study of specific rearrangements or seeking specialist feedback on your reporting —to support the assimilation of what you have learned?
• What support or resources (e.g., clinical guidelines, specialist databases, or senior mentorship) do you need to further develop your expertise in these reflex testing pathways?

Beyond action

Have you revisited the experiences?

• How has your perspective on interpreting chromosomal rearrangements, particularly regarding their implications for recurrence risk, evolved as you have encountered a broader range of clinical cases since this activity?
• Comparing these experiences with your Observed Training Activities (OTAs), what specific observable behaviours—such as your proficiency in applying ISCN nomenclature or coordinating reflex workflows—have you now  assimilated into your practice?
• As part of a module review, how does revisiting your reflections on multiple prenatal reflex testing cases help you identify overarching patterns in your clinical reasoning?
• Through discussions with senior colleagues or peers, has your view of how to manage complex or discordant reflex results changed? Has this mutual exchange of experiences led to any transformation in your approach?

How have these experiences impacted upon your current practice?

• How has this experience supported your development in wider areas, such as writing clear genomic reports and providing management recommendations?
• How have you applied the specialist knowledge of prenatal genomics gained since the original experience to improve the safety and quality of the diagnostic service you provide today?
• In what ways has your technical independence in performing and interpreting FISH and chromosome analysis developed since this specific training activity?
• How is the learning from this activity supporting your preparation for “in-person” assessments, such as Case-based Discussions (CBDs) on chromosomal rearrangements or Direct Observations of Practical Skills (DOPS)?

How might these experiences contribute towards your future practice?

• What transferable skills—such as the ability to synthesise data from multiple technical platforms to reach a definitive diagnosis—are you continuing to develop as you move toward becoming a Clinical Scientist?
• What clear actions have you identified for the continued development of your specialist knowledge to ensure you consistently deliver a safe and high-quality prenatal genomic service in the future?

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.
# 4	Outcome Interpret chromosomal rearrangements for prenatal patients, including implications for recurrence risk and future testing.
# 6	Outcome Report prenatal genomic findings, including appropriate recommendations for patient management.
# 7	Outcome Employ specialist knowledge of prenatal genomics to deliver a safe and high quality prenatal genomic service.