- Docente: Antonio Farina
- Credits: 2
- SSD: MED/40
- Language: Italian
- Teaching Mode: In-person learning (entirely or partially)
- Campus: Bologna
- Corso: Second cycle degree programme (LM) in Medical Biotechnology (cod. 8508)
Learning outcomes
Course contents
Non invasive prenatal diagnosis
1. Combined test
Risk calcualation of Down Syndrome and
other aneuploidies by using nuchal transulcency, PAPP-A
and fbhCG
MoM, Likelihood Ratio, Detection Rate,
risk in positive
Performance indicators of Down S.
screening (Sensitivity or Detection Rate, False Positive Rate, Risk
in Positive)
2. Fetal DNA circulating in maternal plasma
for the prenatal diagnosis of Down Syndorme and
other aneuploidies
Methods of sequences analysis of fetal DNA
(Massevly Parallel Shotgun Sequencing, Target Sequencing Approach,
Single Nucleotide Polymorphisms)
Performanceof fetal DNA
screening
Problems f false positive and false
negative in fetal DNA screening: Mosaicisms, Vaninshing Twin,
Z-score and low fetal fraction frazion
3. Fetal RhD diagnosis from matermal blood
Description of RhD system and
alloimmunizzation syndrome
Cenni di clinica della sindrome da
alloimmunizzazione e follow-up della donna isoimmunizzata
Metodi e strategie di amplificazione (Real Time
PCR Multiplex)
Il problema degli pseudogeni nella
amplificazione
I falsi positivi e i falsi negativi
Diagnosi prenatale invasiva
1 . Villi Coriali per la determinazione del cariotipo e
delle malattie Mendeliane
Indicazioni, vantaggi,
svantaggi, gestione dei mosaicismi
2. Amniocentesi per la determinazione del
cariotipo
Indicazioni, vantaggi, svantaggi,
QF-PCR indicazioni vantaggi
svantaggi
FISH interfasica e metafasica,
indicazioni vantaggi svantaggi
GCH Array indicazioni
svantaggi, vantaggi
Readings/Bibliography
Assessment methods
Teaching tools
Office hours
See the website of Antonio Farina