Combined Bachelor's + Master's degree in Medicine and Surgery

Practical issues in genetic counseling  (Corso Elettivo)

Course code
Name of lecturer
Alberto Turco
Alberto Turco
Number of ECTS credits allocated
Academic sector
Language of instruction
2° semestre 1°- 5° anno dal Feb 17, 2020 al May 29, 2020.

Lesson timetable

Go to lesson schedule

Learning outcomes

To provide the student with the first rudimentary skills and knowledge of clinical genetics and genetic counseling, embedded in the reality of real paradigmatic clinical cases, with all the differential diagnostic problems, information to the family, informed consent, in a complex and multidisciplinary clinical context and setting. Cases of presymptomatic genetic investigations, congenital chromosomal malformation, prenatal genetic diagnosis with option to terminate the affected pregnancy, embryo sexing for severe X-linked disease, and mitochondrial genetic disease will be analyzed.


Introduction to the main rules of postnatal and prenatal genetic counseling: for example, non-directivity. Invasive prenatal diagnosis (amniocentesis, CVS, cordocentesis, fetoscopy). Polyploidy and abortion. Vanishing twin. Linkage diagnosis of ARPKD (autosomal recessive polycystic kidney disease). Testicular hypotrophy and Klinefelter syndrome. Presymptomatic genetic test in ADPKD (autosomal Dominant Polycystic Kidney Disease). Family genetic testing with alleged Huntington's Chorea. Fetal HD exclusion test. Miscarriages and chromosomal translocation.

Reference books
Author Title Publisher Year ISBN Note
Neri G. e Genuardi M. Genetica Umana e Medica (Edizione 4) EDRA LSWR - Masson 2017

Assessment methods and criteria

Eligibility based on the attendance to classes

Dates and times:
Monday 9.3, 23.3, 30.3, 6.4 and 20.4.2020
from 5.30PM to 7.30PM

Rooms B and C, Lente Didattica

Recommended years: II through VI

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