- Docente: Antonio Farina
- Credits: 2
- SSD: MED/40
- Language: English
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: Second cycle degree programme (LM) in Medical Biotechnology (cod. 9081)
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from Oct 07, 2024 to Nov 25, 2024
Learning outcomes
The target of the course is to achieve knowledges the molecular methods of the most common non invasive and invasive methods of prenatal diagnosis. In particular the course focuses on (1) the strategies of dosage of circulating fetal DNA in maternal plasma and the clinical applications; (2) concepts of application of QF-PCR and WES in perinatal medicine.
Course contents
ntroductory 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
Assessment methods
Oral exam
Office hours
See the website of Antonio Farina