Enrollment year
2021/2022
Academic discipline
MED/03 (MEDICAL GENETICS)
Department
DEPARTMENT OF MOLECULAR MEDICINE
Course
BIOMEDICAL LABORATORY TECHNIQUES
Curriculum
PERCORSO COMUNE
Period
(04/10/2021 - 21/01/2022)
Lesson hours
8 lesson hours
Activity type
WRITTEN TEST
Prerequisites
The subjects related to the previous courses of Applied Biology and Medical Genetics represent a foundation. The course program provides for a constant reference of its.
Learning outcomes
To know how the mammalian zygote initiates development and early stages of tissue differentiation; to know the complete overview of Prenatal Diagnostics linking to ministerial directives and access conditions; to know the objectives, the modality and the timing of diagnostic and screening tests; to know application, potential and limits of the tests for the study of chromosomes; to know the characteristics of molecular analysis in the prenatal diagnosis of different applications
Course contents
Introduction to the course: Medical Genetics and Prenatal Diagnostics, diagnostic tests and screening tests. Conditions to access to invasive prenatal diagnosis: a priori genetic risk and increased genetic risk detected during pregnancy. Characteristics of the early stages of mammalian development. Non-invasive diagnostics: ultrasound investigations. Invasive diagnostics: villocentesis, amniocentesis. Prenatal screening test: biochemical tests on maternal serum. Non-invasive prenatal screening based on DNA or NIPT (Non Invasive Prenatal Testing). Chromosome study techniques and prenatal diagnostics. The standard karyotype; potentialities and problems, mosaicism, uniparental disomy. QF-PCR. Molecular analysis in monogenic diseases and prenatal diagnostics. Prenatal diagnostics: pre-implantation genetic diagnosis.
Teaching methods
Lectures
Reccomended or required readings
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Assessment methods
Oral exam
Sustainable development goals - Agenda 2030
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