Title Probir na kromosomopatije u prvom tromjesečju
Title (english) Screening for chromosomopathies in the first trimester
Author Maja Marković
Mentor Ivanka Bekavac Vlatković (mentor)
Committee member Oliver Vasilj (predsjednik povjerenstva)
Committee member Dinka Pavičić Baldani (član povjerenstva)
Committee member Ivanka Bekavac Vlatković (član povjerenstva)
Granter University of Zagreb School of Medicine (Department of Gynecology and Obstetrics) Zagreb
Defense date and country 2018-07-13, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences Gynecology and Obstetrics
Abstract Kromosomopatije su poremećaji broja ili strukture jednog ili više kromosoma. S obzirom na to da predstavljaju značajan uzrok spontanih pobačaja, perinatalne i dojenačke smrtnosti, kao i invaliditeta u slučaju djetetova preživljenja, njihova je rana detekcija jedan od najvažnijih ciljeva prenatalne skrbi. S obzirom na to da invazivni dijagnostički zahvati poput biopsije korionskih resica i amniocenteze sa sobom nose rizik od gubitka trudnoće uzrokovanog samim zahvatom, njihova se primjena ograničila samo na visokorizične pacijentice, a osmišljeni su različiti probirni testovi kako bi se poboljšalo određivanje rizika od fetalnih aneuploidija. Većina ovih testova kombinira dob majke, ultrazvučne markere ili biokemijske testove kako bi se utvrdio rizik od prisutnosti kromosomskih abnormalnosti u drugom tromjesečju. Kombinirani probir, koji se provodi u prvom tromjesečju, utvrđuje rizik od fetalnih aneuploidija temeljem ultrazvučnog nalaza nuhalne prozirnosti i razine slobodnog β-hCG-a i PAPP-A u majčinu serumu. Zbog veće osjetljivosti u odnosu na probirne testove drugog tromjesečja postao je jedan od najkorisnijih probirnih testova danas. Njegove prednosti uključuju i mogućnost ranijeg dobivanja rezultata, više vremena za provođenje genetskog savjetovanja i raniji i sigurniji prekid trudnoće u odabranim slučajevima. Retrospektivno je istraživanje provedeno u Kliničkoj bolnici „Sveti Duh“ uključilo 1672 invazivna dijagnostička zahvata izvedena između 2012. i 2017. godine. Cilj ovog istraživanja bio je utvrditi udio nalaza probira prvog tromjesečja (ultrazvuk i kombinirani probir) u ukupnom broju indikacija za izvođenje dijagnostičkih procedura, kao i odabir procedure temeljem nalaza probira prvog tromjesečja. Također, analizirane su i dob majke i gestacijska dob u vrijeme izvođenja zahvata. Rezultati pokazuju da je broj izvedenih zahvata u posljednjih šest godina pao za 40% i da je, iako je dob majke i dalje najčešća indikacija za izvođenje amniocenteze, udio ultrazvuka i kombiniranog probira u prvom tromjesečju kao indikacije za izvođenje biopsije korionskih resica bio 77,8%, a za amniocentezu 21,7%, kao i da taj postotak kontinuirano raste.
Abstract (english) Chromosomopathies are disorders of the number or structure of one or several chromosomes. Since they represent a significant cause of miscarriage, perinatal and infant mortality, as well as long-term disability in the case of survival, their early detection is one of the most important goals of prenatal care. Since invasive genetic tests such as chorionic villus sampling and amniocentesis carry a risk of procedure-related fetal loss, their use has been limited to high-risk patients only and different screening tests were developed to help determine the risk of fetal aneuplodies. Most of these tests combine maternal age, ultrasonographic markers and maternal serum screening tests to determine the risk of chromosomal abnormalities during the second trimester. The combined test, performed in the first trimester, determines the risk of fetal aneuploidies based on the ultrasonographic findings of nuchal translucency and maternal serum levels of free β-hCG and PAPP-A. Because of its increased sensitivity compared to the second trimester screening tests it has become one of the most useful screening tests nowadays. Its benefits also include earlier results, more time available for genetic counseling and earlier and safer termination of pregnancy in selected cases. A retrospective study was conducted at the Clinical Hospital 'Sveti Duh' that included 1672 invasive diagnostic procedures performed between 2012 and 2017. The aim of this study was to determine the proportion of first trimester screening test results (ultrasound and the combined test) in the total number of indications for performing diagnostic procedures, as well as the procedure that was chosen based on the result of first trimester screening. Also, maternal and gestational age at the time of performing the procedure were evaluated. The results show that the number of performed procedures has decreased by 40 percent in the last six years and that, while the most common indication for performing amniocentesis is still maternal age, first trimester ultrasound and combined test make up 77,8% of all indications for performing chorionic villus sampling and 21,7% for amniocentesis and the percentage is countinuously increasing.
Keywords
kromosomopatije
prenatalni probir
probir u prvom tromjesečju
Keywords (english)
chromosomopathies
prenatal screening
first trimester screening
Language croatian
URN:NBN urn:nbn:hr:105:534593
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
Terms of use
Created on 2018-12-13 09:45:04