Prenatal Genomics —
Training activity: 2

Details

Analyse, interpret and report the results of cell free DNA screening to include NIPT.

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 identify the clinical scenarios where cfDNA/NIPT is the most appropriate testing strategy for patients with an increased screening risk?
• What best practice guidelines (e.g., ACGS) will you use to interpret genomic variants and their clinical significance in a screening context?
• What are the essential components of a prenatal genomic report that ensure patient management recommendations are clear and actionable?
• How will your approach to analysis and reporting demonstrate the specialist knowledge required to deliver a safe, high-quality prenatal service?
• What do you need to know before embarking on the activity? Consider technical requirements like minimum foetal fraction, the biology of placental vs. foetal DNA, and the limitations of screening versus diagnostic testing.

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain from engaging with the analysis of cfDNA?. For example, are you interested in how to handle “no-call” results or suspected confined placental mosaicism?
• Think about what you already know about the task/activity. How does your existing knowledge of chromosomal aneuploidies and molecular biology provide a foundation for interpreting NIPT data?

What actions will you take in preparation for the experience?

• How will you gain clarity on the local laboratory SOPs for NIPT analysis and the specific reporting templates used?
• What challenges do you anticipate (e.g., managing the clinical urgency of prenatal turnaround times or interpreting discordant results between screening and subsequent invasive testing), and how have you planned to handle them?
• Identify how you feel about embarking on this training activity, particularly given the significant impact that NIPT results have on parental decision-making and clinical pathways.

In action

What are you doing?

• How are you currently approaching the analysis and interpretation of the NIPT data, and why have you chosen this specific technical workflow?
• What real-time decisions are you making as you progress through the task—for example, how are you assessing foetal fraction or identifying potential aneuploidies?
• Which parts of the interpretation process (e.g., identifying common trisomies) feel intuitive, and which aspects (e.g., assessing the clinical significance of a rare genomic variant) require more conscious effort?

How are you progressing with the activity?

• How effective are your actions in applying appropriate testing strategies and using specialist knowledge to ensure the investigation remains high-quality?
• What challenges are you facing in the moment—such as managing a “no-call” result or a borderline foetal fraction—and what can you learn from these complexities as they unfold?
• How does this specific task of interpreting genomic variants connect to your existing knowledge of prenatal genetics and best practice guidelines?

How are you adapting to the situation?

• What immediate support or guidance do you need from a senior colleague to resolve technical ambiguities or confirm a difficult interpretation before finalizing the report?
• How are you ensuring that your reporting of prenatal findings and subsequent recommendations 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 activity, specifically detailing the cases you handled and the workflow you followed for the analysis and interpretation of NIPT results.
• What were the essential clinical and technical findings (e.g., foetal fraction, Z-scores, or specific genomic variants) that most significantly influenced your final interpretation for patients referred with an increased screening risk?

What did you learn from the activity?

• What specific skills or knowledge did you develop or improve regarding best practice guidelines to interpret genomic variants in cfDNA?
• How has this experience improved your ability to report prenatal genomic findings and provide appropriate recommendations for patient management?
• Were there any unexpected challenges or successes encountered during the analysis—such as handling borderline foetal fractions or discordant results—and what did you learn from these?
• In what ways did your reflection-in-action—the real-time decisions you made while navigating the task—influence the accuracy and clarity of your final reports?
• How does this experience of delivering a safe and high-quality prenatal genomic service 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 cfDNA analysis and interpretation have you 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 always conducted safely and to a high standard?
• Identify the next steps or actions you will now take—such as reviewing updated ACGS guidelines or seeking specialist feedback—to support the assimilation of what you have learned.
• What support or resources (e.g., access to specific bioinformatics databases or mentorship from senior clinical scientists) do you need to further develop your expertise in prenatal genomics?

Beyond action

Have you revisited the experiences?

• How has your perspective on interpreting genomic variants in a screening context evolved as you have encountered more diverse and complex NIPT results beyond the initial training cases?
• Through discussions with peers or senior colleagues, have you gained new insights into how you communicated high-risk results, and has your view of your earlier reporting changed after hearing their experiences?
• Comparing this experience with your Observed Training Activities (OTAs), what specific observable behaviours specialist prenatal reporting have you now assimilated into your practice?
• As part of a module review, how does revisiting your reflections on this NIPT activity help you identify overarching patterns in your clinical reasoning for patients referred with an increased screening risk?

How have these experiences impacted upon your current practice?

• How has the specialist knowledge gained from this NIPT activity supported your ability to solve complex problems in other areas of your training, such as interpreting invasive prenatal results or managing discordant findings?
• In what ways are you now applying the skills developed here—such as writing reports with management recommendations —to your wider practice and interactions with the clinical team?
• Recognising that these individual activities are building blocks of learning, how has this experience improved your technical independence in variant interpretation?
• How is the learning from this activity helping you prepare for “in-person” assessments, such as Case-based Discussions (CBDs) or Observed Communication Events (OCEs) focused on prenatal genomic services?

How might these experiences contribute towards your future practice?

• What transferable skills—such as the ability to translate technical screening data into clear patient management pathways—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 expertise in cfDNA technology to ensure you remain at the forefront of this rapidly evolving specialist field?
• How will the principles of safe and high-quality prenatal genomics learned here guide your future practice as you adapt to new screening technologies and updated best practice guidelines?

Relevant learning outcomes

#	Outcome
# 1	Outcome Apply appropriate testing strategies to patients referred for increased screening risk.
# 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.