Objective: To comprehend the basis of clinical genetic diagnosis, the prediction and prevention of genetic disorders and genetic counseling.

Course content: Most common monogenic disorders in clinical practice. Common polygenic and complex disorders, patterns of inheritance and clinical manifestation. Chromosomal abnormalities in clinical practice. Clinical and genetic history-clinical aspects of genetic counseling. Clinical disorders of sex development and differentiation. Clinical genetics and investigation of pregnancy loss. Clinical genetics and assisted reproduction. Biochemical markers of fetal abnormalities in maternal blood and ultrasound evaluation of congenital abnormalities. Non-invasive prenatal diagnosis-clinical application. Clinical genetic databases in genetic counseling.

Methods and teaching outcomes: This course provides teaching in combination with clinical and laboratory training and projects for the student. The student will be able to construct a family tree and to recognize patterns of inheritance in genetic diseases and to provide patients with appropriate to diagnostic and predictive tests.

Hours of training per student: 26

Semester: 4th

ECTS: 2