Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Author:
Katsimpoula Ioanna
Supervisors info:
Βρεττού Χριστίνα, ΕΔΙΠ, Ιατρική Σχολή, ΕΚΠΑ, Επιβλέπουσα
Μακρυθανάσης Περικλής, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Συνοδινού-Traeger Ιωάννα-Ραχήλ, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
H μη επεμβατική προγεννητική διάγνωση για μονογονιδιακά νοσήματα στην υπηρεσία της προγεννητικής διάγνωσης
Translated title:
Non-invasive prenatal diagnosis for single-gene diseases in prenatal genetic diagnosis services
Summary:
Prenatal testing employs a variety of imaging and laboratory techniques, which are carried out
from the first weeks of pregnancy, in order to ensure the good health of an unborn fetus.
Prenatal testing has already been used for several years for the early detection of genetic or
other fetal abnormalities. Until recently, doctors used invasive methods, such as
amniocentesis and chorionic villus sampling, in order to isolate fetal DNA to investigate
whether the fetus suffers from a serious genetic disease. These techniques create an
additional stress for the pregnant mother, as there may be a small percentage of complications
caused to the pregnancy. They also need to be done in specific weeks of pregnancy. After the
discovery of cell-free fetal DNA (cffDNA) in maternal circulation combined with technological
developments, prenatal testing can now be carried out at an early stage of pregnancy based
on the isolation of cffDNA following a simple blood draw from the mother.
This thesis study reviews the usage of non-invasive prenatal testing for early and “non
invasive” diagnosis of single-gene disorders. The main techniques used for analysing the
cffDNA that are used today include next-generation sequencing (NGS) and digital PCR (dPCR).
Based on these techniques, the approaches currently established for the diagnosis of a single
gene disease are the relative mutation dosage (RMD) method and the relative haplotype
dosage (RHDO) method.
Main subject category:
Health Sciences
Keywords:
Non-invasive prenatal testing, Cell-free fetal DNA, Prenatal diagnosis, Single-gene diseases, NIPT, NIPD, cffDNA.
File:
File access is restricted only to the intranet of UoA.
ΚΑΤΣΙΜΠΟΥΛΑ ΙΩΑΝΝΑ ΔΙΠΛΩΜΑΤΙΚΗ .pdf
2 MB
File access is restricted only to the intranet of UoA.
