Course: Human Reproduction Genetics

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Course title Human Reproduction Genetics
Course code KMB/242
Organizational form of instruction Lecture
Level of course Master
Year of study not specified
Frequency of the course In academic years starting with an odd year (e.g. 2017/2018), in the summer semester.
Semester Summer
Number of ECTS credits 3
Language of instruction Czech
Status of course Compulsory-optional
Form of instruction Face-to-face
Work placements This is not an internship
Recommended optional programme components None
Lecturer(s)
  • Trubačová Markéta, Mgr.
  • Zrzavá Magda, RNDr. Ph.D.
Course content
The content of lectures: Introduction to human reproduction. Male and female reproductive organs. Gametogenesis. Fertilization. Embryo development. Infertility. Assisted reproduction. Selected aspects of assisted reproduction and reproductive genetics. Genetic counseling. Preimplantation genetic diagnosis. Prenatal diagnosis. Biochemical screening during gestation. Ultrasound in prenatal diagnosis. Methods of cytogenetics and molecular genetics. Prenatal diagnosis of chromosome abnormality. Prenatal diagnosis of genetic defects from fetal cells in the maternal peripheral blood. Prenatal diagnosis of metabolic diseases. Prenatal diagnosis and molecular genetics. Introduction to fetal medicine. Ethical problems of human reproductive genetics.

Learning activities and teaching methods
Monologic (reading, lecture, briefing)
  • Class attendance - 26 hours per semester
  • Preparation for classes - 30 hours per semester
  • Preparation for exam - 30 hours per semester
Learning outcomes
Human reproductive genetics offers preconception and preimplantation genetic diagnosis for families at a high risk of producing offspring with genetic disorders, who wish to avoid elective abortion or to prevent the birth of an abnormal child following prenatal diagnosis. Performing genetic diagnosis prior to fertilization or implantation prevents the initiation of abnormal pregnancies and eliminates the need for the termination of affected fetuses. The course informs about the principles of human reproductive genetics, its methods and its possibilities. The main focus of this course are offered to human assisted reproduction, preimplatation genetic diagnosis and the following prenatal diagnosis. We will also talk about the current situation of human reproductive genetics in the Czech Republic and all over the world.
Students will get a comprehensive overview of embryo development, pregnancy (intrauterine embryo/fetus development), prenatal and preimplantation tests, development, detection, and solution of congenital developmental defects, and assisted reproduction issues.
Prerequisites
Basic understanding of developmental biology and genetics.

Assessment methods and criteria
Written examination

To pass the exam, the student must score at least 70% of points from the final examination text.
Recommended literature
  • Robert Nussbaum, Roderick McInnes, Huntington Willard. THOMPSON & THOMPSON GENETICS IN MEDICINE.
  • THOMPSON, T. Klinická genetika. Praha: Triton, 2004.


Study plans that include the course
Faculty Study plan (Version) Category of Branch/Specialization Recommended year of study Recommended semester
Faculty: Faculty of Science Study plan (Version): Experimental Biology (1) Category: Biology courses - Recommended year of study:-, Recommended semester: Summer