MEDICAL GENETICS
Learning outcomes of the course unit
To give the bases for the understanding the etiopathogenesis of the diseases in man and 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
• Mendelian inheritance in man
• Mutations as cause of variability
Course contents summary
Applications of Medical Genetics to Obstetrics: the genetic basis of the diseases in man and their diagnosis during the pregnancy
Course contents
1. Invasive prenatal diagnosis
- the procedures of cytogentic analysis
- Cytogenetics: aneuploidies and structural chromosomal abnormalities
- Prenatal genetic testing: indications and procedures
4. Pre-implantation diagnosis
2. The genetic diseases diagnosed during pregnancy:
- The mosaicisms and their consequences
- The genomic rearrangements which can not be seen with the chromosomal analysis: CGH arrays
3. Non-invasive prenatal testing (NIPT)
4. Prenatal genetic counseling: characteristics and objectives
Recommended readings
Thompson & Thompson: GENETICS IN MEDICINE. Elsevier, Eight Edition, 2016
Teaching methods
Lectures
Assessment methods and criteria
Multiple choice questionnaries
