2020/2021

2021/2022

DM270

MED/03 (MEDICAL GENETICS)

DEPARTMENT OF MOLECULAR MEDICINE

BIOMEDICAL LABORATORY TECHNIQUES

PERCORSO COMUNE

2°

(04/10/2021 - 21/01/2022)

2

16 lesson hours

Italian language

WRITTEN TEST

MINELLI ANTONELLA - 2 ECTS

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.

to know the complete overview of Prenatal Diagnostics linking to ministerial directives and access conditions; to know the objectives, the modality and the timing of diagnostic and screening tests; to know application, potential and limits of the tests for the study of chromosomes; to know the characteristics of molecular analysis in the prenatal diagnosis of monogenic disease.

 Introduction to the course: Medical Genetics and Prenatal Diagnostics, diagnostic tests and screening tests
 Conditions to access to invasive prenatal diagnosis: a priori genetic risk and increased genetic risk detected during pregnancy
 Non-invasive diagnostics: ultrasound investigations
 Invasive diagnostics: villocentesis, amniocentesis
 Prenatal screening test: biochemical tests on maternal serum; Non-invasive prenatal screening based on DNA or NIPT (Non Invasive Prenatal Testing)
 Chromosomes: cell cycle in relation to mitosis and meiosis; karyotype and how to make it, banding techniques
 Chromosome study techniques and prenatal diagnostics
 The standard karyotype; potentialities and problems, mosaicism, uniparental disomy.
 Molecular cytogenetics: FISH, array-CGH
 QF-PCR
 Molecular analysis in monogenic diseases and prenatal diagnostics
 Prenatal diagnostics: pre-implantation genetic diagnosis

Lectures

Clementi M. Elementi di Genetica Medica, EdiSES Editore

Written exam with multiple choice questions