Značenje uvećane fetalne vratne prozirnosti s urednim kariogramom

master's thesis

• Title (english): Enlarged fetal nuchal translucency with normal karyotype
• Author: Katarina Mikulić
• Mentor: Berivoj Mišković (mentor)
• Committee member: Ratko Matijević (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: 2019-07-12, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Gynecology and Obstetrics

Abstract

Fetalna vratna prozirnost je ultrazvučni prikaz tekućine u fetalnom vratu i normalno se mjeri u prvom tromjesečju trudnoće. Koristi se kao ultrazvučni biljeg za kromosomske greške. Ukoliko je vratna prozirnost veća od standardnih vrijednosti za gestacijsku dob, povišen je rizik za različite kromosomske anomalije ali i anomalije koje nisu uzrokovane kromosomskim poremećajima, uključujući tjelesne deformacije, genetske sindrome i urođene srčane greške. Nakon što se kariotipizacijom isključi kromosomopatija, rizik za nepovoljan ishod trudnoće eksponencijalno raste povećanjem veličine vratne prozirnosti. Međutim, ukoliko fetus preživi te mu se na detaljnom ultrazvučnom pregledu u drugom tromjesečju ne nađe nikakvih anomalija, vjerojatnost urednog ishoda trudnoće i napredovanja u dojenačkoj dobi je istovjetna onoj u općoj populaciji.

Abstract (english)

Fetal nuchal translucency is an ultrasound feature of fluid found in fetal neck and is normally measured in the first trimester of pregnancy. It is used as an ultrasonic marker for chromosomal defects. If the nuchal translucency is greater than the standard for gestational age, there is an increased risk for different chromosomal abnormalities, but also anomalies that are not caused by chromosomal abnormalities, including bodily deformities, genetic syndromes and congenital heart defects. Once karyotyping excludes chromosomal abnormalities, the risk of an adverse pregnancy outcome increases exponentially by increasing the size of the nuchal translucency. However, if the fetus survives and no abnormalities are found in the detailed ultrasound examination in the second trimester, the likelihood of a regular outcome of pregnancy and advancement in the infancy age is the same as in the general population.

• Keywords: vratna prozirnost; prenatalna dijagnostika; kariotipizacija; strukturne anomalije
• Keywords (english): nuchal translucency; prenatal diagnosis; karyotypisation; structural abnormalities
• Language: croatian
• URN:NBN: urn:nbn:hr:105:441826
• 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: 2020-02-03 16:24:15