EMGD0911p Preimplantation and Preconception Genetic Testing - Lecture

Faculty of Medicine
autumn 2024
Extent and Intensity
2/0/0. 4 credit(s). Type of Completion: zk (examination).
Teacher(s)
doc. MVDr. Aleš Hampl, CSc. (lecturer)
Mgr. David Kubíček, Ph.D. (lecturer)
Drahomíra Kyjovská (assistant)
MUDr. Eva Mecová (assistant)
Guaranteed by
doc. MVDr. Aleš Hampl, CSc.
Department of Histology and Embryology – Theoretical Departments – Faculty of Medicine
Supplier department: Department of Histology and Embryology – Theoretical Departments – Faculty of Medicine
Course Enrolment Limitations
The course is only offered to the students of the study fields the course is directly associated with.
fields of study / plans the course is directly associated with
Course objectives
“The aim of the course is to familiarize students with the significance, methods, and possibilities of preimplantation genetic testing.”
Learning outcomes
"After completing the course, the student will: Know the principles of the genetic testing techniques used Be able to determine in which cases to use specific genetic testing methods Be familiar with genetic disorders and diseases that can be excluded through genetic testing."
Syllabus
  • History of Preimplantation Genetic Testing (PGT) Indications and Clinical Aspects of PGT Technical Aspects of Performing Biopsies (polar body biopsy, blastomere biopsy, trophectoderm biopsy) Genetic Analysis Methods (FISH, PCR, WGA, aCGH, NGS, Karyomapping) Preimplantation Genetic Testing for Aneuploidies (PGT-A) Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) Preimplantation Genetic Testing for Predispositions to Serious Diseases Preimplantation Genetic Haplotyping Testing Genetic-Reproductive Compatibility of the Couple Interpretation of Genetic Test Results, Pregnancy after PGT Significance of Genetic Testing (elimination of genetic diseases, mosaicism, deselection and rating of embryos for transfer) Ethical Rules and Legislation, Psychological Factor
Literature
    recommended literature
  • Harper JC: Preimplantation Genetic Diagnosis, 2nd ed, Cambridge 2009.
Teaching methods
lecture
Assessment methods
written exam
Language of instruction
Czech
Further comments (probably available only in Czech)
Information on the extent and intensity of the course: 30.
  • Enrolment Statistics (recent)
  • Permalink: https://is.muni.cz/course/med/autumn2024/EMGD0911p