Prenatal Genomics —
Training activity: 1

Details

Select the correct genetic test(s) for 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?

• How do you plan to differentiate your approach when selecting testing strategies for increased screening risk (e.g., QF-PCR) versus cases involving abnormal ultrasound findings (e.g., microarray or exome) or familial testing for known disorders?
• How will you apply your specialist knowledge to ensure that the selection of these tests contributes to a safe and high-quality prenatal genomic service, particularly considering the clinical urgency of prenatal results?
• What foundational knowledge regarding laboratory techniques (such as rapid aneuploidy testing, arrays, karyotyping, or NGS) and the National Genomic Test Directory criteria do you need to acquire before you begin selecting tests for these samples?

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain regarding the clinical decision-making process—for instance, how the severity of a scan finding or the specific nature of a family history dictates the “correct” test choice?
• Thinking about what you already know about cytogenetics and molecular biology, which aspects of the prenatal testing workflow do you find most complex or interesting to explore further?

What actions will you take in preparation for the experience?

• How will you ensure you understand the local laboratory protocols for handling urgent prenatal referrals?
• What challenges do you anticipate (e.g., managing maternal cell contamination, interpreting variants of uncertain significance in a prenatal context, or meeting strict turnaround times), and how have you planned to handle them?
• How do you feel about embarking on this training activity, considering the significant emotional and clinical impact these test selections have on expectant parents and their healthcare providers?

In action

What are you doing?

• How are you currently approaching the selection of genetic tests for the different referral reasons (increased screening risk, abnormal scan, or familial testing), and what real-time decisions are you making to ensure the strategy matches the specific clinical indication?
• Which aspects of the prenatal testing pathway feel intuitive to you, and where are you finding that you need to apply more conscious effort to ensure technical and clinical accuracy?
• Why have you chosen a particular sequence of testing (e.g., starting with QF-PCR before moving to microarray or exome) for a specific case?

How are you progressing with the activity?

• How effective are your actions in achieving the correct testing strategy for each referral type, and what can you learn from the cases as they unfold?
• What challenges are you facing in the moment—such as interpreting complex ultrasound findings or identifying the correct familial variant—and how are you connecting this task to your existing knowledge of prenatal genomics?
• How are you applying your specialist knowledge during the selection process to ensure the investigation remains high-quality and safe?

How are you adapting to the situation?

• Are there alternative testing approaches you should consider to better manage the clinical urgency or technical limitations of a specific prenatal sample?
• Do you need support or guidance from your training officer or a senior colleague to resolve ambiguities in a referral before the test is initiated?
• How are you ensuring that your selection and interpretation of tests remain strictly within your professional scope of practice while delivering this specialist service?

 

 

 

On action

What did you notice?

• Summarise the key points of the experience, specifically detailing the cases you handled involving increased screening risk, abnormal scans, and familial testing.
• What were the essential findings or clinical details (e.g., specific ultrasound markers or known familial variants) that most significantly influenced your selection of the testing strategy for each referral?

What did you learn from the activity?

• How has this experience improved your ability to apply appropriate testing strategies for diverse prenatal referrals, and what specific specialist knowledge did you develop or improve?
• Were there any unexpected challenges or successes during the selection process—such as navigating complex clinical data or meeting urgent turnaround times—and what did you learn from these?
• In what ways did your reflection-in-action (the real-time decisions you made while assessing the samples) influence the final choice of tests and the quality of the genomic investigation?
• How does this experience of selecting specialist prenatal tests relate to the 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 prenatal genomics have you identified as a result of this activity (e.g., deeper knowledge of specific microarray platforms or exome criteria)?
• How can you apply the learning from this activity to your practice to ensure that prenatal testing strategies are always safe, high-quality, and clinically appropriate?
• What specific next steps or actions—such as reviewing updated National Genomic Test Directory criteria or seeking feedback from senior clinical scientists—will you now take to support the assimilation of what you have learned?
• What support or resources (e.g., specialist prenatal databases or clinical guidelines) have you identified as necessary to further develop your expertise in this field?

Beyond action

Have you revisited the experiences?

• How has your perspective on selecting prenatal testing strategies for increased screening risk, abnormal scans, and familial referrals evolved as you have encountered a wider variety of clinical obstetric cases?
• Comparing this to your Observed Training Activities (OTAs), what specific specialist prenatal behaviours and practices—such as the rapid assessment of screening risks or the application of National Genomic Test Directory criteria—have you now assimilated into your?
• As part of your overall module review, have you identified any consistent patterns or necessary learning actions from revisiting multiple prenatal genomics training activities together?
• Through discussions with peers or senior colleagues, has your understanding of complex or ambiguous prenatal scenarios changed, and has your view of the situation transformed as a result of these mutual exchanges?

How have these experiences impacted upon your current practice?

• How have these individual test selection exercises contributed to your overall training experience, specifically in supporting broader skills like drafting clinical reports or presenting genomic findings to the wider MDT?
• In what ways have you applied and further developed your specialist knowledge of prenatal genomics since the original activity, particularly when handling cases with high clinical urgency?
• How is the learning from these experiences supporting your preparation for your assessments, such as Case-based Discussions (CBDs) or Observed Communication Events (OCEs) focused on prenatal pathways?

How might these experiences contribute towards your future practice?

• What transferable skills—such as the ability to reconcile rapid screening data with definitive diagnostic testing—are you developing through these activities that will be vital to your role as a Clinical Scientist?
• What clear actions have you identified for the continued development of your skills 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.
# 3	Outcome Apply appropriate testing strategies to patients with a family history of a genetic disorder.
# 7	Outcome Employ specialist knowledge of prenatal genomics to deliver a safe and high quality prenatal genomic service.