Prenatal Genomics —
Training activity: 4

Details

Analyse, interpret and report the results of rapid testing for common aneuploidies for prenatal cases and maternal cell contamination exclusion testing (MCC).

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?

• How will you prepare to distinguish between the appropriate testing strategies required for patients referred for increased screening risk versus those with abnormal ultrasound findings?
• Which and best practice guidelines (such as ACGS) will you focus on to ensure you can accurately interpret common aneuploidies and determine their clinical significance?
• What are the critical elements you need to include in a prenatal genomic report to provide safe, high-quality recommendations for patient management, particularly following an increased NIPT risk?
• Identify what you need to know before embarking on the activity, such as the technical limitations of rapid testing (e.g., QF-PCR or FISH), the National Genomic Test Directory criteria, and local SOPs for urgent prenatal referrals.

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain from analysing these cases, such as how to handle discordant results between a high-risk NIPT screening result and a rapid diagnostic test?
• Think about what you already know about the mechanisms of common aneuploidies (Trisomy 13, 18, and 21) and how this foundational knowledge will support your ability to report findings clearly to clinicians.

What actions will you take in preparation for the experience?

• How will you ensure you understand the necessary clinical urgency and the specific reporting templates used for rapid prenatal results?
• Consider possible challenges you might face, such as managing maternal cell contamination, technical failures, or interpreting findings in the context of complex scan abnormalities, and think about how you might handle them.
• Identify how you feel about embarking on this training activity, considering the significant professional responsibility and the emotional impact these rapid results have on expectant parents.

In action

What are you doing?

• How are you currently approaching the analysis of rapid aneuploidy tests (such as QF-PCR or FISH) for these specific referral reasons, and what real-time decisions are you making to ensure the testing strategy matches the clinical indication?
• As you progress through the interpretation of variants, which aspects of your practice feel intuitive, and which require more conscious effort or direct reference to best practice guidelines?
• Why have you chosen your current method for integrating the clinical referral data with the laboratory findings as you begin to draft the report?

How are you progressing with the activity?

• How effective are your actions in achieving a clear result for patients referred for increased screening/NIPT risk or abnormal scan findings?
• What technical or clinical challenges—such as potential maternal cell contamination or discordant results—are you facing in the moment, and what are you learning from them as the case unfolds?
• How are you applying your specialist knowledge of prenatal genomics during the analysis to ensure the investigation remains safe and high-quality?
• How does this live activity connect to your existing knowledge of chromosomal abnormalities and your previous training in molecular techniques?

How are you adapting to the situation?

• Are there alternative analytical approaches you should consider if the initial rapid test provides an ambiguous or unexpected result?
• Do you need support or guidance from your Training Officer or a senior Clinical Scientist to ensure your recommendations for patient management are accurate before before drafting the report?
• How are you ensuring that your actions, particularly when handling the time-sensitive nature of prenatal results, remain strictly within your professional scope of practice?

On action

What did you notice?

• Summarise the key points of the activity, specifically detailing the rapid testing cases you handled for increased screening risk, increased NIPT risk, and abnormal ultrasound findings.
• What were the essential findings (e.g., specific trisomies identified via QF-PCR or FISH) and clinical details that most significantly influenced your final interpretation and the urgency of the report?

What did you learn from the activity?

• What specific skills or knowledge did you develop regarding the use of best practice guidelines to interpret common aneuploidies and determine their clinical significance?
• How has this experience improved your ability to report prenatal genomic findings and provide clear, appropriate recommendations for patient management?
• Were there any unexpected challenges or successes encountered—such as managing discordant results between NIPT screening and diagnostic rapid testing—and what did you learn from these?
• In what ways did your reflection-in-action (the real-time adjustments you made during the analysis) influence the technical accuracy and the quality of the final clinical report?
• How does this experience of delivering a safe and high-quality prenatal genomic service relate to the requirements for your future post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What specific areas for continued development in rapid aneuploidy testing and prenatal reporting have you identified as a result of this activity?
• How can you apply the learning from these urgent cases to your practice to ensure that all prenatal genomic investigations are conducted to the highest specialist standards?
• Identify the actions you will now take—such as further review of the National Genomic Test Directory or seeking feedback on your report clarity—to support the assimilation of what you have learned.
• What support or resources (e.g., updated clinical guidelines or mentorship from senior clinical scientists) do you need to further develop your expertise in this field?

Beyond action

Have you revisited the experiences?

• How has your perspective on rapid aneuploidy testing strategies evolved as you have encountered a wider variety of clinical cases beyond your initial training period?
• Comparing this experience with your Observed Training Activities (OTAs), what specific observable behaviours—such as the rapid analysis of QF-PCR traces or the application of best practice guidelines for urgent reporting—have you now assimilated into your practice?
• As part of a module review, how does revisiting your reflections on these rapid testing cases help you identify overarching patterns in your clinical reasoning, especially when results are discordant with screening or scan findings?
• Through discussions with senior colleagues or peers, have you gained new insights into the complexities of prenatal diagnostics, and has your view of the situation transformed as a result of these mutual exchanges?

How have these experiences impacted upon your current practice?

• Recognising that these individual rapid testing exercises are building blocks of your learning, how have they supported your development of wider skills such as writing clinical reports or communicating technical findings to the MDT?
• How have you applied the specialist knowledge gained since the original experience to improve the safety and quality of the prenatal genomic service you provide today?
• In what ways has your proficiency in variant interpretation improved since this specific activity was first completed?
• How is the learning from these experiences supporting your preparation for “in-person” assessments, such as Case-based Discussions (CBDs) on aneuploidy pathways or Direct Observations of Practical Skills (DOPS) for rapid testing techniques?

How might these experiences contribute towards your future practice?

• What transferable skills—such as managing high-pressure, time-sensitive clinical results and making critical decisions under urgency—are you continuing to develop as you progress toward becoming a Clinical Scientist?
• What clear actions have you identified for the continued development of your specialist knowledge to ensure you remain competent in delivering safe and high-quality prenatal genomics as technologies and guidelines evolve?

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.
# 5	Outcome Interpret genomic variants for prenatal patients and investigate the clinical significance of variants using best practice guidelines.
# 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.