MCE5212 - Genetic testing in ART - 2019

6 points, SCA Band 3, 0.125 EFTSL

Postgraduate - Unit

Refer to the specific census and withdrawal dates for the semester(s) in which this unit is offered.


Medicine, Nursing and Health Sciences

Organisational Unit

Department of Obstetrics and Gynaecology

Chief examiner(s)

Dr Kiri Beilby


Dr Sally Catt

Unit guides


Monash Medical Centre

  • Second semester (extended) 2019 (On-campus)
  • Second semester (extended) 2019 (Online)


Must be enrolled in the following course code: 2309, M6010


This unit will provide a detailed understanding of the molecular biology and genetic diagnostic techniques utilised in Assisted Reproductive Technology (ART) programs. Students will be taught the differences between Pre Implantation Screening (PGS) by array techniques, pre-implantation genetic diagnosis (PGD) of singe gene disorders and non-invasive pre-natal testing. This knowledge is enhanced by learning how biopsies are performed on embryos, how the biopsied cells are processed for the various different genetic tests, and how these tests are interpreted in a clinical setting On completion, students will possess a sound theoretical knowledge and understanding of the molecular and genetic techniques used in a clinical human genetics laboratory, and also be familiar with the different practical applications of these techniques. They will also appreciate ethical implications and societal expectation in PGS and PGD.


Upon successful completion of this unit, students will be able to:

  1. Explain the historical and current techniques used for chromosomal and molecular genetic analysis in clinical situations
  2. Compare pre-implantation genetic screening, pre-implantation genetic diagnosis of single gene disorders and non-invasive pre-natal testing
  3. Describe the technical aspects behind embryo biopsy, including cell extraction and result interpretation
  4. Critically analyse the complexities and limitations of current genetic technology
  5. Diagnose a clinical genetic case
  6. Critically analyse ethical implications and societal expectations of genetic testing and regenerative medicine


  • Written exam (2 hours) (50%) (hurdle)
  • Clinical case study (iSAP) (1,500 words) (35%)
  • Ethical debate on preimplantation genetic screening practices (15 minutes) (10%)

Peerwise (5%)

Workload requirements

For on-campus students, this unit is conducted over four weeks in Semester 2. It is expected that students attended all lectures and tutorials associated with this unit.

For off-campus students all material is accessible online during Semester 2.

Expect 18 hours per week of directed and self-directed learning over a four week block.

See also Unit timetable information

This unit applies to the following area(s) of study

Additional information on this unit is available from the faculty at: