cod. 14441

Academic year 2023/24
6° year of course - First semester
Academic discipline
Genetica medica (MED/03)
Attività formative affini o integrative
Type of training activity
10 hours
of face-to-face activities
1 credits
hub: PARMA
course unit

Integrated course unit module: GYNECOLOGY AND OBSTETRICS (PETSE)

Learning objectives

To give the bases for the understanding of the strategies for the prenatal diagnosis of the main genetic diseases


• DNA structure and replication
• Chromosome structure and human karyotype
• Gene structure, transcription and maturation of the mRNA.
• Protein structure. Structure and function of the enzymes
• Phenotypic variation at the cellular, tissue and individual level

• Genetic polymorphisms
• Mendelian inheritance in man
• Principles of population genetics
• Mutations as cause of variability
• Gene mutations. Types, location and genetic analysis
• Molecular mechanisms of the genetic mutations and their consequences for the synthesis and structure of the proteins
• Chromosomal aneuploidies and their pathogenetic mechanism

Course unit content

Applications of Medical Genetics to Obstetrics: the prenatal diagnosis of genetic diseases

Full programme

- Invasive prenatal diagnosis
1. New Regional law regulating the access to the prenatal diagnosis (August 2017)
2. Cytogenetics: indications and procedures for amniocentesis and chorionic villi
3. Prenatal genetic testing: indications and procedures
4. Pre-implantation diagnosis

2. Mosaicisms and their consequences
a. Definition
b. Types of mosaicisms for the analysis of amniotic liquid and chorionic villi
3. The chromosomal structural abnormalities: reciprocal and robertsonian translocations an risks of unbalancement

4. The supernumerary markers in prenatal diagnosis

5. CGH arrays: indications in prenatal diagnosis

6. The exome in prenatal diagnosis: main indications

7. Non-invasive prenatal testing (NIPT)

8. Prenatal genetic counseling: characteristics and objectives


G. Neri e M. Genuardi: GENETICA UMANA E MEDICA. Elsevier Masson ed., V edizione, 2024

Thompson & Thompson: GENETICA IN MEDICINA. Edises, 2018

Teaching methods


Assessment methods and criteria

Multiple choice questionnaries

Other information

- - -