90946 - Prenatal Molecular Diagnosis

Learning outcomes

To learn the applications of the aforementioned techniques in prenatal medicine, particularly in first-trimester screening. To acquire knowledge of medical counseling to assist gynecologists in cases of positive screening test results. To understand the causes of false positive and false negative results. To gain knowledge of genetic conditions for which it is currently appropriate to propose screening in the prenatal setting.

Course contents

Introductory lesson on genetic diseases and the significance of invasive and non-invasive prenatal diagnosis.

Algebraic and clinical basis of screening tests with a particular focus on the combined test.

Examination of prenatal pathologies for which molecular biology has a diagnostic and/or counseling role.

Understanding the main methods of analyzing prenatal pathologies for invasive (NIPT) and non-invasive studies:

QF-PCR for the analysis of the most common trisomies.

Massively parallel sequencing: Counting methods and SNP methods with practical examples of the methods available on the market. Comparison of the various NIPT tests and their optimal applications in different types of pregnancies (egg donations, twin pregnancies, etc.).

Fetal alloimmunization syndrome and non-invasive diagnosis of fetal RhD from maternal blood using Real Time PCR.

Discussion of clinical cases.

Readings/Bibliography

Educational material that includes slides and handouts from the teacher

Teaching methods

Lectures

Office hours

See the website of Antonio Farina