Mastering the use of fundamental genetic terms and the concepts associated with them, with particular regard to the genome, the variations caused by the various genetic diseases. Recognize the different models of Mendelian inheritance through the study of family trees and the characteristics of the non-Mendelian forms examined. Correctly identify the different levels of investigation of the genetic, molecular or chromosomal material and the potential of the associated tests. Understand and know the indications for the examination of chorionic villi or amniocytes in invasive prenatal diagnosis and the applications of prenatal screening. Mastering genetic tests and laboratory protocols applied in prenatal diagnostics (non-invasive and invasive)
Course Prerequisites
The subjects related to the previous courses of Applied Biology and Medical Genetics represent a foundation. The course program provides for a constant reference of its.
Teaching Methods
Lectures
Assessment Methods
LEARNING ASSESSMENT METHOD: Written exam with 11 multiple-choice questions and one open-ended questions requiring complete but concise answers. Only correct answers will count toward the final score; incorrect answers will NOT deduct points.
Texts
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Contents
Non-invasive and invasive prenatal diagnosis Conditions of access to invasive prenatal diagnosis Characteristics of the early stages of mammalian development Non-invasive prenatal diagnosis (screenings): ultrasound investigations, biochemical tests, the combined test Non-invasive DNA-based prenatal screening (NIP- Non Invasive Prenatal Testing) Invasive prenatal diagnosis: embryo-fetal material sampling techniques: CVS, amniocentesis, funiculocentesis. Genetic Diagnosis Pre-implantation (PGT) Cytogenetic prenatal diagnosis: examination on chorionic villi, examination on amniocytes, examination by funiculocentesis; potentialities and problems, mosaicism. Molecular prenatal diagnosis for monogenic diseases
