Reviewing: S-G-S2-2

Prenatal Genomics

Information:

Module information

Details

Title
Prenatal Genomics
Type
Specialist
Module code
S-G-S2-2
Credits
10
Requirement
Compulsory

Aim of this module

This module aims to provide the trainee with the knowledge required to prenatally diagnose patients with common and rare chromosomal and genomic disorders. Trainees will develop the skills to apply genomic testing for prenatal testing and appreciate the implications of results on family members.

This module includes the following exemplars: chromosomal screening and testing following an increased screening results for chromosomal aneuploidies, genomics investigations following abnormal ultrasound findings, invasive and non-invasive testing strategies for families with a known genetic history.

Work-based content

Competencies

# Learning outcome Competency Action
# 1 Learning outcome 1,2 Competency

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
 Action View
# 2 Learning outcome 1,4,6 Competency

Analyse, interpret and report the results of cell free DNA screening to include NIPT, and select appropriate reflex tests and prepare interpretive reports for a range of prenatal cases

 Action View
# 3 Learning outcome 1,4,6 Competency

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

 Action View
# 4 Learning outcome 2,4,5,6 Competency

Analyse, interpret and report the results of cases referred for abnormal scan findings, as examples:

  • QFPCR
  • Microarray analysis
  • Karyotyping
 Action View
# 5 Learning outcome 2,5,6 Competency

Analyse, interpret and report the results for cases referred for prenatal exome analysis

 Action View
# 6 Learning outcome 3,4,5,6 Competency

Analyse, interpret and report the results of cases referred due to a family history of a genomic condition, to include:

  • Segregation analysis
  • Targeted molecular tests
 Action View
# 7 Learning outcome 3,5,6 Competency

Analyse, interpret and report the results of cell free DNA diagnosis, to include NIPD. Select appropriate reflex tests and prepare interpretive reports for a range prenatal cases

 Action View
# 8 Learning outcome 1,2,3,4,5,6 Competency

Present three case studies for investigations that require the integration of molecular and cytogenetics laboratory techniques for full interpretation of prenatal genetic findings

 Action View
# 9 Learning outcome 1,2,3,4,5,6 Competency

Participate in multidisciplinary discussions of genetic findings in a prenatal setting

 Action View
# 10 Learning outcome 1,2,3,6,7 Competency

Participate in service delivery for prenatal services

 Action View

Assessments

Complete 2 Case-Based Discussions

Complete 2 DOPS or OCEs

Direct Observation of Practical Skills Titles

  • Analyse and interpret results for a prenatal genetic investigation.
  • Prepare a report for a prenatal genetic investigation.
  • Classify a variant.
  • Identify if a referral is appropriate for the testing required.
  • Prepare a clinical report.

Observed Communication Event Titles

  • Provide advice to another healthcare professional on the requirements for a sample for prenatal investigation.
  • Identify results from testing with another healthcare science specialty which are relevant to the results of a prenatal genetic investigation.
  • Provide an urgent result to another healthcare professional.

Learning outcomes

# Learning outcome
1

Apply appropriate testing strategies to patients referred for increased screening risk.
2

Apply appropriate testing strategies to patients referred following abnormal ultrasound scan findings.
3

Apply appropriate testing strategies to patients with a family history of a genetic disorder.
4

Interpret chromosomal rearrangements, including implications for recurrence risk and future testing.
5

Interpret genomic variants, including copy number changes and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines.
6

Interpret and report prenatal genomic findings, including appropriate recommendations for patient management.
7

Employ specialist knowledge of prenatal genomics to deliver a safe and high quality prenatal genomic service.

Academic content (MSc in Clinical Science)

Important information

The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.

Learning outcomes

On successful completion of this module the trainee will be able to:

  1. Describe the principles of screening programmes and the difference between screening and diagnosis in the context of prenatal testing.
  2. Explain the maternity clinical care pathway with respect to a strategy for prenatal testing and prenatal diagnosis of genetic and genomic disease.
  3. Critically evaluate laboratory tests associated with fetal anomaly screening, including biochemical methods, ultrasound scans and the range of genomic laboratory methods.
  4. Explain prenatal diagnosis for genetic and genomic disease, including NIPT/D and invasive testing.
  5. Discuss and debate the clinical, scientific, ethical and legal dimensions of prenatal diagnosis.
  6. Demonstrate a critical awareness of the specific clinical risks associated with prenatal screening and testing, as well as the potential impact for the patient and their family.

Indicative content

  • The organisation, delivery and performance of the national screening programme for aneuploidy and fetal anomaly.
  • The follow up testing for screening programme positive cases.
  • The context of prenatal testing within the maternity clinical care pathway.
  • Specific diagnostic methods appropriate for screen positive results including:
    • Rationale.
    • Limitations.
    • Best practice guidelines.
    • National guidance and/or strategy, for example, the National Fetal Anomaly Screening Programme.
  • Key performance indicators (KPIs) as currently offered in the UK.
  • An awareness of developing methods, including those offered elsewhere but not formally adopted in the UK.
  • Understanding relevant testing methodologies and their application to prenatal genomics, to include:
    • Rapid aneuploidy testing using current technology.
    • Prenatal microarray.
    • Targeted mutation testing.
    • Next generation sequencing methods.
    • NIPT/NIPD.
    • Chromosome analysis.
  • Limitations of each of the above tests, including sensitivity and specificity including:
    • Mosaicism, and confined placental mosaicism.
    • Maternal cell contamination.
    • Polysomy
    • Allele drop-out.
    • Twin pregnancies.
  • External quality assurance (EQA) relevant to prenatal genomics.
  • Interpret archived results based on older technologies and the implication and limitation of these results for the patient and family.
  • Awareness of the importance of turnaround time in the pathway of care.
  • Role of multidisciplinary team meetings to aid interpretation.
  • Ethical and legal considerations of prenatal diagnostic testing.
  • Follow-up management including termination of pregnancy.
  • Legislation associated with pregnancy and the unborn fetus.

Clinical experiences

Important information

Clinical experiential learning is the range of activities trainees may undertake in order to gain the experience and evidence to demonstrate their achievement of module competencies and assessments. The list is not definitive or mandatory, but training officers should ensure, as best training practice, that trainees gain as many of these clinical experiences as possible. They should be included in training plans, and once undertaken they should support the completion of module assessments and competencies within the e-portfolio.

Activities

  1. Observe sample processing and set up of assays for prenatal genetic/genomic investigations to appreciate the impact sample origin has on analysis and interpretation.
  2. Attend multidisciplinary team meetings to appreciate the role of genetics in the patient pathway.
  3. Observe a fetal ultrasound scan to appreciate the screening process and patient pathway.

Module assigned to

Specialties

Specialty code Specialty title View
Specialty code SLS4-1-26 Specialty title Genomics [2026] Action View
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