Title KROMOSOMSKE PROMJENE U PRENATALNOJ DIJAGNOSTICI
Title (english) CHROMOSOME ABERRATIONS IN PRENATAL DIAGNOSTIC
Author Ana Tadić
Mentor Jadranka Vraneković (mentor)
Committee member Nada Starčević-Čizmarević (predsjednik povjerenstva)
Committee member Bojana Brajenović-Milić (član povjerenstva)
Committee member Jadranka Vraneković (član povjerenstva)
Granter University of Rijeka Faculty of Medicine (Department of Biology and Medical Genetics) Rijeka
Defense date and country 2020-09-23, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Basic Medical Sciences Human Genetics, Genomics and Proteomics
Abstract Kromosomske abnormalnosti vodeći su uzrok intelektualnog zaostajanja. Povezane su s kongenitalnim anomalijama koje mogu rezultirati perinatalnom smrti ili rođenjem djeteta s malformacijom. Cilj ovoga rada bio je prikazati učestalost numeričkih i strukturnih promjena kromosoma te opisati indikacije za prenatalnu dijagnostiku koja je provedena u laboratoriju za citogenetiku Zavoda za medicinsku biologiju i genetiku, Medicinskog fakulteta Sveučilišta u Rijeci, u razdoblju od 01.01.2004. do 01.09.2020. godine. U ispitivanom razdoblju analizirano je 4054 uzoraka plodove vode. Uredan kariotip detektiran je u 3837 (94,6%) uzoraka, dok je u preostalih 217 (5,4%) utvrđen aberirani kariotip. Numeričke promjene kromosoma detektirane su u 51% ispitivanih uzoraka, a najčešća je bila trisomija 21 (67%). Strukturne promjene detektirane su u 49% slučajeva od toga vodeća promjena bila je pericentrična inverzija kromosoma 9 (75%). U preostalih 25% (26/106) uzoraka detektirana je balansirana recipročna translokacija, najčešće naslijeđena od majke. Robertsonova translokacija utvrđena je u 27% uzoraka plodove vode te je također bila najčešće naslijeđena od majke. Kao vodeća indikacija u 217 ispitivanih uzoraka s detektiranom kromosomopatijom pokazala se dob majke (59%). Slijedi nalaz biokemijskog testa probira II tromjesečja (17%). Medijan starosne dobi ispitanica na dan zahvata iznosio je 37 godina (raspon od 19 do 48 godina), dok je medijan gestacijske dobi bio 17 tjedana (raspon od 11 do 28 tjedana). Rezultati rada prikazuju značajan pad broja analiziranih uzoraka plodove vode tijekom ispitivanog razdoblja, što je najvjerojatnije posljedica demografskih obilježja, ali i uvođenja osjetljivijih testova probira za kromosomopatije, kao i novih metoda molekularne kariotipizacije. Međutim, konvencionalna kariotipizacija i dalje predstavlja zlatni standard dijagnostike, prvenstveno u detekciji balansiranih strukturnih promjena, ali i mozaičnog kariotipa niskog stupnja mozaicizma.
Abstract (english) Chromosomal abnormalities are the leading cause of intellectual disability. They are associated with congenital anomalies that may result in perinatal death or with the birth of a child with malformation. The aim of this study was to present the frequency of numerical and structural chromosomal aberrations and to list the indications for prenatal diagnosis in the cytogenetic laboratory at the Department of Medical Biology and Genetics, Faculty of Medicine, University of Rijeka, in the period from 1stJanuary 2004 until 1stSeptember 2020. In the observed period, 4054 samples of amniotic fluid were analyzed. Normal karyotype was detected in 3837 (94.6%) samples, while the remaining 217 (5.4%) samples showed an aberrant karyotype. Numerical chromosomal aberrations were determined in 51% samples. The most common aberration was trisomy 21 (67%). Structural chromosomal changes were detected in 49% samples. Leading one was a pericentric inversion of chromosome (75%) in rest of 26 samples balanced reciprocal translocation, was found in 58% of the samples and mostly inherited from the mother . Robertsonian translocation was found in 27% of amniotic fluid samples and was most commonly inherited from the mother, too. The leading indication among 217 examined samples with detected chromosomopathies was maternal age (59%), followed by the biochemical screening test of the second trimester (17%). The median age of the participants was 37 years (range 19 to 48 years), while the median gestational age was 17 weeks (range 11 to 28 weeks). The results indicate a significant decrease in the number of prenatal diagnostic samples which is most likely due to demographic circumstances, as well as development of more sensitive screening tests for aneuploidies and new methods of molecular karyotyping. However, conventional karyotyping still represents the gold standard, primarily for the detection of balanced structural changes, but also for detection of the mosaic karyotype with a low degree of mosaicism.
Keywords
invazivne metode
numeričke i strukturne promjene kromosoma
prenatalna dijagnostika
Keywords (english)
invasive methods
numerical and structural chromosomal aberration
prenatal diagnosis
Language croatian
URN:NBN urn:nbn:hr:184:104870
Study programme Title: Study of Sanitary Engineering Study programme type: university Study level: undergraduate Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) sanitarnog inženjerstva (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) sanitarnog inženjerstva)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2021-01-11 09:21:38