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.
|Number||Work-based learning outcome||Title||Knowledge|
Choose the correct prenatal sample pathway for the sample received.
Perform the analysis and interpretation of rapid aneuploidy screening results.
Prepare full and accurate interpretive clinical reports for rapid aneuploidy testing.
Perform the analysis and interpretation of Prenatal Chromosomal Microarray.
Prepare full and accurate interpretive clinical reports for Prenatal Chromosomal Microarray testing.
Perform the analysis and interpretation of Prenatal Diagnosis for single gene mutations.
Prepare full and accurate interpretive clinical reports for Prenatal Diagnosis of single gene disorders.
Perform follow up genetic tests, to include directed FISH and karyotype analysis (generally regional specific assays).
Assist in the analysis and interpretation of Non-Invasive Prenatal Testing (NIPT).
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|
|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|
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.
All aspects of: