Prenatal Genomics —
Training activity: 1

Details

Select the correct genetic test(s) for the patient samples referred for prenatal testing referral reasons, to include:

• Increased screening risk
• Abnormal scan
• Familial testing

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?

• Have you reviewed the learning outcomes to ensure you are prepared to apply appropriate testing strategies for patients referred specifically for increased screening risk and abnormal ultrasound scan findings?
• How have you explored the curriculum ‘considerations’ to focus your attention on the fundamental differences between screening and diagnosis within the maternity clinical care pathway?
• What essential knowledge have you identified as necessary regarding the national screening programme for aneuploidy and foetal anomalies before you begin the selection process?
• Have you considered how the critical nature of turnaround times in prenatal care will influence your choice between rapid aneuploidy testing and more comprehensive genomic methods?

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain regarding the rationale for choosing one methodology—such as QFPCR, microarray, NGS, or NIPT/NIPD—over another for different clinical indications?
• How have you reflected on your existing knowledge of test limitations, such as mosaicism, maternal cell contamination (MCC), and allele drop-out, to understand how they impact the reliability of a chosen test?
• In what ways do you anticipate this activity will improve your ability to critically evaluate the range of laboratory methods available for screen-positive results?
• How have you thought about how this experience will help you navigate the clinical and ethical dimensions of prenatal testing for families with a known genetic history?

What actions will you take in preparation for the experience?

• How have you prepared for your discussion with your Training Officer to gain clarity on the expectations for identifying if a referral is truly appropriate for the testing required?
• Which specific resources, such as NICE guidelines, the National Foetal Anomaly Screening Programme, or local testing algorithms, have you reviewed to ensure your selections are evidence-based?
• Have you identified the potential challenges of dealing with incomplete clinical information or ambiguous scan details, and what steps do you plan to take to resolve these issues?
• How have you identified your feelings about embarking on this activity, particularly given the highly sensitive nature of prenatal testing and its impact on subsequent management decisions?
• What actions have you taken to familiarise yourself with the typical genetic investigations that follow specific abnormal ultrasound findings to ensure your selection remains within the scope of practice?

In action

What are you doing?

• How are you approaching the selection of genetic tests for these specific prenatal referrals, and why have you chosen this particular sequence of steps to evaluate cases of increased screening risk or abnormal ultrasound findings?
• What decisions are you making right now as you determine whether a rapid aneuploidy test (QFPCR), a prenatal microarray, or a non-invasive strategy (NIPT/NIPD) is the most appropriate first-line investigation?
• What aspects of matching a test to a prenatal phenotype (such as specific foetal anomalies) feel intuitive to you, and which parts require a more conscious effort to align with national screening programmes or local laboratory policies?
• How are you identifying if the provided clinical information is sufficient to justify the requested testing, or if the referral requires further clarification from the clinician?

How are you progressing with the activity?

• How effective are your current strategies in identifying the correct test when the clinical information is ambiguous or highly incomplete, such as an abnormal scan finding that lacks detail?
• What specific challenges are you facing in this moment—for instance, are you finding it difficult to decide between invasive and non-invasive testing for a particular indication?
• In what ways do your current actions connect to your existing knowledge of the maternity clinical care pathway and the fundamental differences between screening and diagnosis?
• What are you learning as the task unfolds about the limitations of different methodologies, such as the risks of mosaicism, maternal cell contamination, or allele drop-out in prenatal samples?

How are you adapting to the situation?

• Are there alternative approaches you are considering, such as a tiered testing strategy, if the initial clinical picture is unclear or if a case falls outside standard laboratory protocols?
• What immediate support or guidance do you feel you need from your Training Officer or a senior clinical scientist to ensure your test selection is appropriate for a complex familial history?
• How are you ensuring that your decisions remain within your scope of practice, particularly when managing the clinical urgency and turnaround time targets required for prenatal care?
• How are you adjusting your selection strategy to ensure it addresses the specific clinical question raised by the referral while remaining within the scope of available laboratory resources?

On action

What did you notice?

• How would you summarise the key points of the experience when selecting genetic tests for the various prenatal referrals, such as those for increased screening risk, abnormal scans, or familial testing?
• What specific clinical details or interactions did you notice were most significant during the selection process, such as a complex family history or critical details from an ultrasound report?
• Which ‘reflect-in-action’ moments did you notice where you had to adapt as the situation unfolded, for instance, changing an initial plan because of unexpected information about a patient’s prior testing?

What did you learn from the activity?

• What specific skills or knowledge did you develop regarding the application of appropriate testing strategies for prenatal disorders, such as the indications for microarray versus NIPT?
• In what ways did you successfully manage challenges, such as dealing with ambiguous referral information or deciding between invasive and non-invasive strategies?
• How did your real-time adjustments during the activity—such as consulting a testing algorithm for incomplete data—influence the final test selection?
• How does this experience relate to the requirements for your future post-programme practice as a Clinical Scientist, particularly in ensuring diagnostic planning remains within laboratory capability?

What will you take from the experience moving forward?

• What areas for continued development have been identified, such as a need to further explore test limitations like mosaicism, maternal cell contamination (MCC), or allele drop-out?
• How will you apply the learning from this activity to your routine practice, for example, by ensuring you always consider the limitations of NIPT before selection?
• What specific steps will you now plan to take to consolidate your learning, such as routinely reviewing national guidelines (e.g., the National Foetal Anomaly Screening Programme) for screen-positive results?
• What support or resources—such as access to expert mentorship for unusual referral types or specific databases for genotype-phenotype correlations—do you need to further develop in this area?

Beyond action

Have you revisited the experiences?

• Have you reviewed your actions from previous reflections for this activity to determine if you have completed the specific actions previously identified to improve your practice in applying testing strategies?
• How have you re-evaluated your initial decisions regarding test selection—such as the choice between microarray and karyotyping for abnormal scan referrals—in light of your subsequent experience with these technologies?
• How have you engaged in professional storytelling with peers or colleagues regarding the challenges and successes of selecting between non-invasive prenatal testing (NIPT) and invasive testing for specific indications?
• How do the practices you have assimilated—such as systematically reviewing clinical criteria—compare across different modules, specifically when contrasting prenatal test selection with your experiences in Paediatric Genomics?
• How has your view of these situations changed through mutual exchange with others, and have you identified new actions to take as a result of these discussions?

How have these experiences impacted upon your current practice?

• How has the accumulated learning from this activity supported your preparation for ‘in-person’ assessments, such as the Direct Observation of Practical Skills (DOPS) ‘Identify if a referral is appropriate for the testing required’?
• In what ways has your understanding of the maternity clinical care pathway evolved to influence your current decision-making, such as the need to prioritise rapid QFPCR over comprehensive testing when turnaround time is critical?
• How have you applied the foundational knowledge gained from selecting prenatal tests to inform your problem-solving in other areas of genomics, perhaps even outside of the prenatal specialty?
• How has your practice in applying appropriate testing strategies developed as you have gained a more holistic view of the service pathway, from referral to follow-up?

How might these experiences contribute towards your future practice?

• What transferable skills in clinical reasoning and diagnostic planning have you developed through this activity that will help you evaluate and adopt new genomic technologies in the future?
• How will the principles you have learned here help you adapt to future advancements, such as new NIPT applications or testing algorithms that have not yet been formally adopted in the UK?
• What clear actions for continued development have you identified to ensure you stay current with evolving national guidelines for prenatal screening and testing?
• How will your understanding of the logistical challenges of delivering a timely service help you contribute to future service improvements and innovations as a Clinical Scientist?

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.