Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Supervisors info:
Traeger Συνοδινού Ιωάννα Ραχήλ, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Φρυσίρα Ελένη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Τζέτη Μαρία, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Μελέτη χρωμοσωμικών ανωμαλιών σε δείγματα προγεννητικού ελέγχου
Translated title:
Chromosomal abnormalities in prenatal screening samples
Summary:
This diploma thesis deals with the study of chromosomal abnormalities in samples of amniotic fluid and chorionic villi during prenatal cytogenetic testing.
Conventional cytogenetic analysis detects numerical as well as structural abnromalities of ≥3-5 Mb in size and is clinically valuable in the context of fetal development monitoring and genetic counseling.
This study was carried out in in the Department of Prenatal Cytogenetics, Medical Genetics Laboratory of the University of Athens, in Choremio Research Laboratory of the "Agia Sophia" Children's Hospital. Samples of amniotic fluid and chorionic villi were used from cases referred to the laboratory for prenatal diagnosis.
The scope of this work is:
● the identification to become familiar with chromosomes and chromosomal abnormalities in 46 analyzed samples reffered for prenatal cytogenetic testing. The study involved microscope slide preparations as well as metaphase digital images.
● to study chromosomal abnormalitites in samples from chorionic villus and amniotic fluid. The incidence of chromosomal abnormalities in prenatal cytogenetic testing , as well as the frequency for each type of chromosomal abnormality individually, will be calculated. For this reason 1315 cases were collected from years 2014, 2015 and 2016.
● to estimate the predictive value of the ultrasound and biochemical 1st trimester markers, by using samples from pregnant women that have been reffered for further invasive testing for the purpose of cytogenetic analysis of the fetus. 194 cases of chorionic villus and amniotic fluid samples with pathologic ultrasonographic and biochemical results and an increased risk for a pathological fetus were selected
Main subject category:
Health Sciences
Keywords:
Cytogenetics, Prenatal control, Numerical-structural anomalies, Incidence, Assessment of prenatal invasive and non-invasive methods
Number of references:
125
