Prenatal Genomics (SLS420)

10 credits

Aim of this module

This module will provide the trainee with knowledge and understanding of the role and application of genetic and genomic testing for prenatal testing, including screening and diagnosis and . It will also consider the potential impact of prenatal testing on the patient and their family.


  1. Apply an appropriate testing strategy (the right sample, the right test, for the right reasons) meeting all relevant KPIs (key performance indicators, however defined).
  2. Analyse and interpret results of specific defined tests.
  3. Identify and respond appropriately to results.
  4. Compose fully interpreted clinical reports guided by current best practice guidance.
  5. Act in accordance with the high level of laboratory risk associated with prenatal testing and within limits of their responsibilities.
Number Work-based learning outcome Title Knowledge
1 1,5

Choose the correct prenatal sample pathway for the sample received.

2 1,2,3,5

Perform the analysis and interpretation of rapid aneuploidy screening results.

3 4,5

Prepare full and accurate interpretive clinical reports for rapid aneuploidy testing.

4 1,2,3,5

Perform the analysis and interpretation of Prenatal Chromosomal Microarray.

5 4,5

Prepare full and accurate interpretive clinical reports for Prenatal Chromosomal Microarray testing.

6 1,2,3,5

Perform the analysis and interpretation of Prenatal Diagnosis for single gene mutations.

7 4,5

Prepare full and accurate interpretive clinical reports for Prenatal Diagnosis of single gene disorders.

8 1,2,3,5

Perform follow up genetic tests, to include directed FISH and karyotype analysis (generally regional specific assays).

9 1,2,3,5

Assist in the analysis and interpretation of Non-Invasive Prenatal Testing (NIPT).

10 4,5

Prepare full and accurate interpretive clinical reports for Non- Invasive Prenatal Diagnosis (NIPD).

You must complete
2 Case-based discussion(s)
2 of the following DOPS / OCEs
Assessment Title Type
Analyse and record results for single gene mutation analysis DOPS
Analyse and record results of QF PCR data using fragment analysis software DOPS
Set up FISH slide for aneuploidy detection DOPS
Analyse FISH slide and record results DOPS
Analyse results of a prenatal array using appropriate software package and record results DOPS
Set up PCR for aneuploidy screen DOPS
Set up PCR for targeted single gene mutation analysis DOPS
Perform duty scientist checking of samples referred for aneuploidy screening DOPS
Analyse results of NIPT DOPS
Prepare a patient report for NIPT DOPS
Prepare a patient report for aneuploidy screening DOPS
Use bioinformatics tools to interpret clinical significance of a prenatal array result DOPS
Participate in an MDT meeting with other healthcare professionals OCE
Take a patient history can be undertaken in virtual patient environment OCE
Discuss patient results with a healthcare professional telephone or in person OCE

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. Explain Rapid Aneuploidy screening and testing, including combined screening (biochemical and ultrasound scan) and the range of 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. Recognise and describe the specific clinical risks associated with prenatal screening and testing, as well as the potential impact for the patient and their family.

Indicative Content

Screening Programmes

  • The clinical, scientific, ethical and social requirements for prenatal testing
  • The organisation,   delivery    and   performance   of    the    national screening programme for aneuploidy and fetal anomaly
  • The follow up pathways for screening programme positive cases

 Maternity Clinical Care Pathways for prenatal testing

  • 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 (BPG)
    • 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

 Prenatal testing

All aspects of:

  • Rapid Aneuploidy testing using current technology
  • Prenatal Microarray
    • Validate and verify results
  • Targeted mutation testing including:
    • suitability of platforms
    • sensitivity and specificity
    • follow up testing (which may include FISH or karyotyping or specific molecular testing for example)
    • the reason for the test, reasons for referral and the likely outcomes
    • the patient cohort
    • prior information required
    • the tissue for testing (blood, Chorionic Villus Sampling (CVS), amniotic fluid)
    • the potential for unexpected outcomes and how this is mitigated or dealt with
  • 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
  • BPG and KPI for each of the tests listed above
  • Result confirmation, when this is appropriate, by which method and at which time point (pre or post-natal)
  • External Quality Assurance (EQA) schemes for each of the above tests
  • Analysis of results, including identification of poor or substandard test performance and corrective action
  • 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

 Interpretation and reporting of results to include:

  • Utilisation of appropriate validated algorithms which are likely to include critical appraisal of literature, laboratory and publicly accessible databases
  • Classification of finding where appropriate (pathogenic, likely pathogenic )
  • Clinical report writing
  • Role of multi-disciplinary team (MDT) meetings to aid interpretation

 Non-invasive prenatal testing/diagnosis (NIPT/D)

  • accessibility for pregnant women (NHS commissioned tests, private providers, research projects)
  • technical principles
  • diagnostic scope
  • sensitivity and specificity
  • incidental findings for the following purposes:
  • fetal sexing
  • familial single gene mutations
  • Trisomy 21 and other aneuploidies
  • other chromosome imbalance

 Ethical and legal considerations of prenatal diagnosis

  • Consent for prenatal testing, storage of patient material and informed choice
  • High risk nature of samples in relation to patient decision making
  • Follow-up management including termination of pregnancy
  • Legislation associated with pregnancy and the unborn fetus