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
Lecture slides and notes
Assessment methods and criteria