CITOGENETICA E ASPETTI BIOLOGICI DELLA DIAGNOSI PREIMPIANTO E PRENATALEModule CITOGENETICA
Academic Year 2026/2027 - Teacher: MARCO FICHERAExpected Learning Outcomes
At the end of the course, students should be able:
To describe the types of genomic variants, the mechanisms of occurrence and to explain how these variations may be pathogenic. To understand the fundamentals of probability to calculate the genetic risk. To explain and identify non-Mendelian mechanisms such as: reduced penetrance, variable expressivity, uniparental disomy, mosaicism, and genomic imprinting. To describe the genetic and genomic methods in prenatal and preimplantation diagnostic testing.
Course Structure
Frontal teaching and practical exercises.
Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus.
Required Prerequisites
Detailed Course Content
•
The Chromosome structure
and morphology
•
Numerical chromosomal
aberration and mechanisms of occurrence
•
Structural chromosomal
aberration and mechanisms of occurrence
•
Uniparental disomy
•
Imprinting
•
Classical
Cytogenetics and banding techniques
•
The karyotype and its
diagnostic indications
•
FISH analysis
•
Array-CGH and
pathogenic mechanisms of the CNVs
•
SNP-array
•
Statistical analysis
of array signals
•
Consanguinity and genetic
risk
•
Validation methods of
genomic imbalances (MLPA, RealTime-PCR)
•
The use of whole
genome sequencing for the identification of genomic structural variants
•
Fundamentals of
probability, independent and dependent events . The use of Bayes’ theorem in the calculation of the
recurrence risk. Positive and negative predictive values
•
The whole genome
sequencing in the identification of genomic structural variants
•
Prenatal diagnosis: definition,
indications and limits, non invasive (NIPT) and invasive (methods e invasivi
•
(amniocentesis,
chorionic villus sampling). Preimplantation Genetic Diagnosis (PGD), genetic
risk factors
Textbook Information
Book Title:Prenatal Diagnosis
Editors Brynn: Levy
Series Title: Methods in Molecular Biology
Slide fornite dal docente
Course Planning
| Subjects | Text References | |
|---|---|---|
| 1 | •The Chromosome structure and morphology | |
| 2 | Numerical chromosomal aberration and mechanisms of occurrence Structural chromosomal aberration and mechanisms of occurrence Uniparental disomy Imprinting Classicall cytogenetics and banding techniques | |
| 3 | Array-CGH and pathogenic mechanisms of the CNVs | Pages 171-186 from prenatal diagnosis |
| 4 | SNP-array Statistical analysis of array signals | Pages 187-205 from prenatal diagnosis |
| 5 | Consanguinity and genetic risk | slides 45-50 fornite dal docente |
| 6 | Fundamentals of probability, independent and dependent events . The use of Bayes’ theorem in the calculation of the recurrence risk. Positive and negative predictive values | slides 55-70 fornite dal docente |
| 7 | Validation methods of genomic imbalances (MLPA, RealTime-PCR) | Pages 129-170 from prenatal diagnosis |
| 8 | The use of whole genome sequencing for the identification of genomic structural variants | Pages 85-102 from prenatal diagnosis |
| 9 | • Prenatal diagnosis: definition, indications and limits, non invasive (NIPT) and invasive (methods e invasivi • (amniocentesis, chorionic villus sampling). Preimplantation Genetic Diagnosis (PGD), genetic risk factors | Pages 3-84 from prenatal diagnosis |
Learning Assessment
Learning Assessment Procedures
Examples of frequently asked questions and / or exercises
2) Invasive diagnostic methods ing prenatal testing
3) Technical and bioinformatic approaches for the identification of genomic structural variants using WGS
4) The identification of mosaicsm
5) The use and the technical background of NIPT