MEDICAL GENETICS
ACCADEMIC YEAR2014/2015
COD. 14441
dati insegnamento:
DEGREE: Medicine and Surgery
TYPE OF COURSE: SUPPLEMENTARY COMPULSORY SUBJECTS
LANGUAGE OF INSTRUCTION: Italian
LECTURERS:
NERI Tauro Maria
ACADEMIC YEAR: 2014/2015
YEAR OF STUDY: 6
SEMESTER: First semester
NUMBER OF CREDITS: 1
UNIT COORDINATOR: NERI Tauro Maria
CONTACT HOURS: 7
INDIVIDUAL WORK HOURS: 17
Learning outcomes of the course unit
The student is introduced to the critical use of prenatal diagnosis techniques in diagnosiis of genetic diseases.
The student should be able to calculate a risk figure using clinical data and statistical inference and to evaluat the risk of a dysmorphism during pregnancy.
Course contents summary
Prenatal diagnosis, direct and indirect methods (combined test, amniocentesis, chorionic villus biopsy pros and cons.
Indirect indicators of genetic risk in the fetus: hyperechogenic bowel and risk evaluation using Bayesian inference.
The dysmorphic fetus:the role of genes and environment
Recommended readings
Lecture slides and notes
Teaching methods
Oral lectures
Assessment methods and criteria
Oral examination
