Training activity information
Details
Analyse and interpret the results of QFPCR used for prenatal cases referred due to an increased screening risk, select appropriate reflex tests and prepare interpretive reports
Type
Entrustable training activity (ETA)
Evidence requirements
Evidence the activity has been undertaken by the trainee repeatedly, consistently, and effectively over time, in a range of situations. This may include occasions where the trainee has not successfully achieved the outcome of the activity themselves. For example, because it was not appropriate to undertake the task in the circumstances or the trainees recognised their own limitations and sought help or advice to ensure the activity reached an appropriate conclusion.
Reflection at multiple timepoints on the trainee learning journey for this activity.
Considerations
- The role of the biochemical screening during pregnancy
- The scientific basis of Down’s/Patau’s/Edwards’ syndrome screening
- Principles of the assay
- Best practice guidance
- Local and national guidance
- Quality control, including IQC, and EQA
- Nomenclature
- Interpretation of results
- Reflex testing options
- Disease mechanism
- Test sensitivity and limitations, including mosaicism, and maternal cell contamination
- Impact of confined placental mosaicism and fetal mosaicism on diagnosis
- Local SOPs
- Health and safety
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 does success look like?
- Identify what is expected of you: to accurately analyse and interpret QFPCR results, select appropriate reflex tests based on the findings, and prepare a clear interpretive report.
- Consider how the learning outcomes apply, specifically concerning interpreting and reporting prenatal genomic findings, and employing specialist knowledge to deliver a high-quality service.
- What does accurate analysis and interpretation look like, including correctly interpreting QFPCR peaks, recognizing aneuploidies, and ensuring the report adheres to reporting standards for increased risk cases?
- Discuss with your training officer to gain clarity of what is expected in terms of analysis, interpretation, reflex testing decisions, and reporting standards.
What is your prior experience of this activity?
- Think about what you already know about QFPCR methodology, result analysis (e.g., interpreting peaks), and interpreting these results in the context of prenatal aneuploidy screening.
- Consider possible challenges you might face, and think about how you might handle them, e.g., interpreting complex QFPCR data, recognising the need for reflex testing (like karyotyping or microarray) based on atypical findings or results outside the scope of QFPCR.
- Recognise the scope of your own practice for this activity i.e. know when you will need to seek advice or help, and from whom, e.g., with unusual results or complex interpretations.
- Acknowledge how you feel about embarking on this training activity, considering you are interpreting results that follow an increased screening risk.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop – drawing upon previous experiences of similar activities, e.g., proficiency in QFPCR result analysis and interpretation, and applying guidelines for identifying common aneuploidies.
- Identify specific insights you hope to gain from engaging with the activity, e.g., appreciating the limitations of the test (such as mosaicism, maternal cell contamination) and learning how results influence patient management and follow-up testing strategies.
What additional considerations do you need to make?
- Consult actions identified following previous experience of analysing or interpreting QFPCR or other prenatal test results.
- Identify important information you need to consider before embarking on the activity, e.g., reviewing QFPCR analysis protocols, criteria for selecting reflex tests e.g., QFPCR results outside the scope of common aneuploidies, and standard reporting templates for prenatal results.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate during the analysis and interpretation of the QFPCR test results?
- Are you encountering situations such as:
- Identifying complex or ambiguous QFPCR results e.g., unusual peak ratios or potential mosaicism that require focused attention to detail beyond typical trisomy identification.
- The QFPCR findings suggesting an atypical aneuploidy or structural rearrangement outside the scope of rapid testing, necessitating an immediate decision on an unplanned reflex test (e.g., microarray).
- You are realising that a potential test limitation, such as maternal cell contamination or allele drop-out, might be complicating the finding.
How are you reacting to the unexpected development?
- How is this impacting your actions? For example, are you responding to the situation appropriately? Are you adapting or changing your approach to the analysis?
- Consider the steps you are taking in the moment, such as:
- Immediately reviewing raw QFPCR data or checking quality control metrics e.g., reviewing peak heights and allele ratios to verify the data integrity.
- Seeking immediate advice from a clinical scientist regarding the interpretation of a complex result or the selection of reflex tests e.g., justifying the need for karyotyping or microarray.
- Are you ensuring that your interpretation considers the potential implications of the findings for the pregnancy and family?
- How are you feeling in that moment? For instance, are you finding it difficult to focus on specific variant criteria or the test limitations when under time pressure? Is it affecting your ability to identify and classify the potentially clinically significant findings?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, are you successfully classifying the result and recommending the appropriate reflex test based on established protocols? Or are you needing support due to the complexity of the interpretation e.g., interpreting ambiguous peak patterns?
- What are you learning as a result of the unexpected development? For example, are you learning a specific approach to handling and documenting findings potentially influenced by technical limitations e.g., mosaicism or maternal cell contamination?
On action
What happened?
- Begin by summarising the key points of the experience of analysing and interpreting the QFPCR results, e.g., the key QFPCR results analysed for prenatal cases with increased screening risk.
- Consider specific events, actions, or interactions which felt important, such as identifying specific patterns in the QFPCR data indicative of common aneuploidies or performing calculations.
- Include any ‘reflect-in-action’ moments, where you had to adapt to the situation as it unfolded, for instance, immediately deciding to recommend a reflex microarray based on an ambiguous or unexpected QFPCR result. How did you feel during this experience?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding QFPCR analysis, e.g., deepening your understanding of QFPCR principles and limitations like maternal cell contamination or mosaicism.
- What strengths did you demonstrate e.g., proficiency in QFPCR interpretation? What skills and/or knowledge gaps were evident e.g., unfamiliarity with specific reflex testing criteria?
- Compare this experience against previous QFPCR analysis activities – were any previously identified actions for development achieved? Has your practice in analysis and interpretation improved?
- Identify any challenges you experienced, e.g., interpreting complex or borderline QFPCR data or recognising specific technical issues, and how you reacted to these. Were you able to overcome the challenges?
- Identify anything significant about the activity, such as seeking clarification on the reporting standards for results outside the scope of common aneuploidies, to ensure you were working within your scope of practice.
- Acknowledge any changes in your own feelings now you are looking back on the experience.
What will you take from the experience moving forward?
- Identify the actions or ‘next steps’ you will now take to support the assimilation of what you have learnt, including from any feedback you have received, e.g., enhancing skills in analysing QFPCR data or improving reporting clarity for recommendations.
- What will you do differently next time you analyse and interpret QFPCR results, e.g., systematically checking QFPCR data against specific quality control metrics? Has anything changed in terms of what you would do if you were faced with a similar situation again?
- Do you need to practise any aspect of the activity further, e.g., gaining further knowledge regarding specific reflex testing strategies or QFPCR interpretation challenges?
Beyond action
Have you revisited the experiences?
- Have you reviewed your actions from your previous reflections for this activity? What specific actions did you previously identify you would need to take to improve your practice related to analysing quantitative data or selecting reflex tests?
- Have you completed these previously identified actions? For example, if you planned to review the criteria for interpreting QFPCR data when mosaicism or maternal cell contamination is suspected, how did completing this review impact your subsequent performance when classifying an ambiguous result?
- Engage in professional storytelling with peers, near peers, or colleagues about challenging QFPCR interpretations. How have complex cases encountered since this initial activity, such as those requiring unusual reflex testing, refined your skills in interpreting QFPCR and ensuring clear reporting?
- Compare these experiences with those from interpreting data from other genetic technologies (e.g., microarray). What observable analytical practices (e.g., identifying anomalies in quantitative data) have you assimilated into your own practice?
How have these experiences impacted upon current practice?
- Consider how the accumulated learning from performing or reflecting on QFPCR analysis will support you in preparing for observed ‘in-person’ assessments for the module, such as the DOPS titled ‘Analyse and interpret results for a prenatal genetic investigation’ or ‘Classify a variant’.
- How has your ability to interpret QFPCR data evolved over time, especially in recognizing potential complexities (e.g., potential test limitations)?
- How has your participation in multidisciplinary discussions or clinical experiences provided new insights into the clinical significance of QFPCR findings and the impact of reflex testing decisions on the clinical pathway?
- What transferable skills e.g., quantitative analysis, clear reporting are you developing that will be valuable in your future practice? For example, how have the analytical and interpretive skills developed here analysing quantitative data, determining follow-up been applicable to interpreting results from other genomic technologies, such as CNV analysis?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply appropriate testing strategies to patients referred for increased screening risk. |
| # 4 |
Outcome
Interpret chromosomal rearrangements, including implications for recurrence risk and future testing. |
| # 6 |
Outcome
Interpret and report prenatal genomic findings, including appropriate recommendations for patient management. |