Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Supervisors info:
Τζέτη Μαρία (Επιβλέπουσα) Αναπλ. Καθηγήτρια Γενετικής, Ιατρική Σχολή, Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών
Συνοδινού-Traeger Ιωάννα-Ραχήλ Καθηγήτρια Γενετικής, Ιατρική Σχολή, Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών
Φρυσίρα Ελένη Ομ. Καθηγήτρια Κλινικής-Ιατρικής Γενετικής, Ιατρική Σχολή, Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών
Original Title:
Μη επεμβατικός προγεννητικός έλεγχος χρωμοσωμικών ανωμαλιών του εμβρύου και επιπλοκών της κύησης
Translated title:
Non-invasive prenatal testing of fetal chromosomal abnormalities and pregnancy complications
Summary:
Since the mapping of the human genome and the introduction of technological applications into the diagnosis of genetic diseases, the early detection of chromosomal abnormalities in a pregnancy has been greatly improved. Non-invasive prenatal screening based on fetal DNA analysis is a relatively new technology that is increasingly becoming the method of choice for prenatal screening for chromosomal aneuploidies in over 90 countries.The first part of this thesis details the monitoring of chromosomal abnormalities that may occur in the fetus, such as trisomy 21, 18 and 13 or Turner’s monosomy using biochemical and ultrasound markers, with greater emphasis on the newest technology, namely the use of free fetal DNA in the mother's circulation, while comparing the efficacy of each method. The second part analyzes the most important complications during pregnancy as well as how they can be controlled and prevented. Some of these complications are gestational diabetes mellitus, preeclampsia and premature birth. Finally, counseling plays a key role in the decision of a pregnant woman (or couple) to choose the most appropriate prenatal screening, based on the history.
Main subject category:
Health Sciences
Keywords:
Non-invasive prenatal testing (NIPT), Cell-free fetal DNA (cffDNA), Chromosomal abnormalities, Biochemical markers, Pregnancy complications
Number of references:
273
