Back Module: S-G-S6-1

Prenatal Genomics

Module information

Module details

Title
Prenatal Genomics
Type
Specialist
Module code
S-G-S6-1
Credits
10
Phase
2
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 samples and appreciate the implications of results on pregnancy outcomes and family members.

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

Work-based content

Training activities

# Learning outcome Training activity Type Action
# 1 Learning outcome 1, 2, 3, 7 Training activities

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 DTA Action View
# 2 Learning outcome 1, 5, 6, 7 Training activities

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

 Type DTA Action View
# 3 Learning outcome 3, 5, 6, 7 Training activities

Analyse, interpret and report the results of cell free DNA diagnosis, to include NIPD.

 Type DTA Action View
# 4 Learning outcome 1, 2, 5, 6, 7 Training activities

Analyse, interpret and report the results of rapid testing for common aneuploidies for prenatal cases and maternal cell contamination exclusion testing (MCC).

 Type DTA Action View
# 5 Learning outcome 2, 4, 5, 6, 7 Training activities

Analyse, interpret and report the results of prenatal cases with copy number changes using appropriate current technology e.g. microarray or Whole Genome Sequencing (WGS).

 Type DTA Action View
# 6 Learning outcome 1, 2, 4, 6, 7 Training activities

Analyse, interpret and report the results of appropriate additional tests to follow-up abnormal findings from invasive prenatal testing, to include:

  • FISH
  • Chromosome analysis
 Type DTA Action View
# 7 Learning outcome 2, 5, 6, 7 Training activities

Analyse, interpret and report the results of diagnostic prenatal cases with sequence variants using appropriate current NGS technology e.g. Exome sequencing or Whole Genome Sequencing (WGS).

 Type DTA Action View
# 8 Learning outcome 3, 4, 5, 6, 7 Training activities

Analyse, interpret and report the results of prenatal cases referred due to a family history of a genomic condition, using targeted molecular tests.

 Type DTA Action View
# 9 Learning outcome 3, 4, 5, 6, 7 Training activities

Analyse, interpret and report the results of prenatal cases referred due to a family history of structural chromosome rearrangements.

 Type DTA Action View
# 10 Learning outcome 1, 2, 3, 7 Training activities

Liaise with multidisciplinary specialists to inform clinical decision making related to prenatal testing.

 Type DTA Action View
# 11 Learning outcome 1, 2, 3, 6, 7 Training activities

Participate in service delivery for prenatal services to include:

  • Communication with other healthcare professionals
  • Troubleshooting of testing

 

 Type DTA Action View

Assessments

Complete 2 Case-Based Discussions

Complete 2 DOPS or OCEs

Direct Observation of Practical Skills

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

Observed Communication Event Titles

  • Provide advice to another healthcare professional on the requirements for a sample for prenatal investigation.
  • Communicate an urgent prenatal testing 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 for prenatal patients, including implications for recurrence risk and future testing.
5

Interpret genomic variants for prenatal patients and investigate the clinical significance of variants using best practice guidelines.
6

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.

Clinical experiences

Clinical experiences help you to develop insight into your practice and a greater understanding of your specialty’s impact on patient care. Clinical experiences should be included in your training plan and you may be asked to help organise your experiences. Reflections and observations from your experiences may help you to advance your practice and can be used to develop evidence to demonstrate your awareness and appreciation of your specialty.

Activities

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

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

  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.
  • 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 CNV analysis .
    • Targeted variant 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.
  • 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.

Module assigned to

Specialties

Specialty code Specialty title Action
Specialty code SLS4-1-27 Specialty title Genomics [2027] Action View
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