Prenatal Diagnosis of Genetic Pathologies (RGN_041)
About Study Course
Objective
To introduce the medical genetics resident to prenatal diagnosis of hereditary and congenital foetal development anomalies, pregnancy planning for families at increased risk of giving birth to a child with congenital anomalies, antenatal care possibilities, screening of chromosomal and structural pathologies and ethical aspects at the Clinic of Medical Genetics and Prenatal Diagnosis.
Learning outcomes
1.Medical genetics resident defines the role of genetic factors in maintaining health, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogens in the development of human congenital anomalies. To describe how changes in chromosomes and DNA alter the function or number of genes, major monogenic and other forms of inheritance. To describe the clinical signs of the most common congenital monogenic and chromosomal diseases. To understand the clinical significance of penetrance, variable expression, anticipation and new mutations.
1.To collect the family anamnesis, interpret the family tree, recognise patients with the risk of developing genetic diseases, provide genetic counselling in accordance with the established objectives, methods and accepted practice, calculate the risk of recurrence of monogenic diseases. To explain the concept of risk to the patient in an understandable way, provide the genetic information in an understandable way and allow the patient and their family to make a decision.
1.The medical genetics resident learns the sections of genetic anamnesis, draws a family tree, assesses the patient’s physical condition and the basics of dysmorphology; determines types of heredity, creates an examination plan based on international guidelines and evidence-based databases, is able to differentiate possible genetic pathology, determine heredity risk factors, provide counselling to patients and families with certain genetic pathologies.
