Biopsija korionskih resica u dijagnostici kromosomopatija

master's thesis

• Title (english): Chorionic villi sampling in diagnostic of chromosomal abnormalities
• Author: Marin Jakić
• Mentor: Berivoj Mišković (mentor)
• Committee member: Vesna Elveđi Gašparović (predsjednik povjerenstva)
• Committee member: Dinka Pavičić-Baldani (član povjerenstva)
• Committee member: Berivoj Mišković (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Gynecology and Obstetrics); Zagreb
• Defense date and country: 2016-09-28, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Gynecology and Obstetrics

Abstract

Biopsija korionskih resica (BKR) je invazivna metoda prenatalne dijagnostike koja se izvodi od navršenog desetog do četrnaestog tjedna. Tijekom zahvata uzima se adekvatan uzorak korionskih resica, koji se šalje na citogenetsku analizu radi dijagnosticiranja kromosomskih ili drugih genetskih poremećaja fetusa. Postoje razne indikacije za BKR, a među najvažnijima su ultrazvučni nalaz, rezultati biokemijskog probirnog testa, opterećena anamneza te starost trudnice. Od nedavno, indikacija za BKR može biti rezultat prenatalnog neinvazivnog genetskog testa koji se dobije analizom slobodne fetalne izvanstanične RNA izravno iz krvi majke. Citogenetski nalaz biopsije korionskih resica je definitivna dijagnoza, a ukoliko je nalaz uredan, uklanja strah i neizvjesnost roditelja u vrlo ranoj fazi trudnoće. Patološki nalaz omogućuje prekid trudnoće ukoliko to roditelji žele, a može se izvesti jednostavnije i bezbolnije u odnosu na prekid koji se izvodi u kasnijoj fazi trudnoće. Na Klinici za ginekologiju i porodništvo KB „Sveti Duh“ već se dugi niz godina rabi tehnika BKR, a učestalost patoloških kariograma u razdoblju od 2010. do 2015. Godine iznosi 34 %. Učestalost BKR na Klinici u navedenom razdoblju nije se mijenjala unatoč sve većoj uporabi prenatalnih neinvazivnih testova.

Abstract (english)

Chorionic villus sampling (CVS) is an invasive method of prenatal diagnosis that is performed from tenth to fourteenth week of pregnancy. During the procedure appropriate chorionic villus sample is taken and sent to the cytogenetic analysis in order to diagnose chromosomal or other genetic disorders of the fetus. There are various indications for CVS and the most important are ultrasound, results of biochemical screening test, burdened by history andage of the pregnant woman. Recently,indications for CVS may be the result of non-invasive prenatal genetic test which is obtained by analyzing free fetal extracellular RNA directly from the mother's blood.Cytogenetic findings of chorionic villus sampling is a definitive diagnosis, and if result is normal, removes the fear and uncertainty of parents at a very early stage of pregnancy. Pathology result allows termination of pregnancy if the parents want, and can be made easier and less painful compared to the interruption which is performed at a later stage of pregnancy. The Department of Obstetrics and Gynecology Hospital „Sveti Duh“ has used for many years CVS techniques, and the frequency of pathological cariogram in the period from 2010. to 2015. is 34%. Frequency of CVS in the Clinic in that period did not change despite the growing use of non-invasive prenatal tests.

• Keywords: Biopsija korionskih resica; prenatalna dijagnostika; kromosomopatije
• Keywords (english): Chorionic villi sampling; prenatal diagnosis; chromosomal abnormalities
• Language: croatian
• URN:NBN: urn:nbn:hr:105:178478
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-08-09 08:58:14