Prenatal Diagnosis of Genetic Pathologies (RGN_020)
About Study Course
Objective
To introduce the medical genetics resident to prenatal diagnostics of hereditary and congenital foetal development anomalies, pregnancy planning for families with elevated risk to give birth to a child with congenital anomalies, antenatal care possibilities, screening of chromosomal and structural pathologies and ethical aspects at the Medical genetics prenatal diagnostics clinic.
Learning outcomes
1.Medical genetics resident defines the role of genetic factors in health maintenance, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogenes in development of human congenital anomalies. To describe how changes in chromosomes and DNA change the function or number of genes, main monogenetic and other types of inheritance. To describe the clinical signs of the most common congenital monogenetic and chromosomal diseases. To understand the clinical meaning of penetrance, variable expression, anticipation, and new mutation.
1.To gather family anamnesis, draw and interpret the family tree, recognize patients with a genetic disease of risks of development of a genetic disease, to give genetic advice in accordance with the goals, methods and practice adopted, to calculate the monogenetic diseases’ recurrence risk, explain the concept of risk to a patient understandably, provide the genetic information understandably, and to allow the patient and his/her family to make the decision.
1.Medical genetics resident learns the chapters of genetic anamnesis, to draw a family tree, assess the patient's physical condition, and the basics of dysphormology; to determine types of heredity, to create an examination plan based on international guidelines and evidence-based data bases, to be able to differentiate a potential genetic pathology, to determine hereditary risk factors, to give advice to patients and families with certain genetic pathologies.
