Learning objectives
To give the bases for the understanding of the strategies for the prenatal diagnosis of the main genetic diseases
Prerequisites
• 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
Bibliography
G. Neri e M. Genuardi: GENETICA UMANA E MEDICA. Elsevier Masson ed., V edizione, 2024
Thompson & Thompson: GENETICA IN MEDICINA. Edises, 2018
Teaching methods
Lectures
Assessment methods and criteria
Multiple choice questionnaries
Other information
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