Learning objectives
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 unit content
Applications of Medical Genetics to Obstetrics: the genetic basis of the diseases in man and their diagnosis during the pregnancy
Full programme
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
Bibliography
Thompson & Thompson: GENETICS IN MEDICINE. Elsevier, Eight Edition, 2016
Teaching methods
Lectures
Assessment methods and criteria
Multiple choice questionnaries
Other information
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2030 agenda goals for sustainable development
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