Author/Editor     Bricelj, Katja; Vuković, Maja; Verdenik, Ivan; Osredkar, Joško; Geršak, Ksenija
Title     Analiza četvernega testa za odkrivanje trisomije 21 in trisomije 18 v drugem trimesečju nosečnosti
Translated title     Analysis of second trimester quadruple screening test for trisomy 21 and trisomy 18
Type     članek
Vol. and No.     Letnik 83, št. 9
Publication year     2014
Volume     str. 597-602
ISSN     1581-0224 - Zdravniški vestnik
Language     slv
Abstract     V Sloveniji izvajamo presejalni četverni test za odkrivanje kromosomskih nepravilnosti ploda v drugem trimesečju nosečnosti od leta 2006 naprej. Test temelji na meritvah koncentracij štirih biokemičnih označevalcev v krvi nosečnice (ß-HCG, alfa-fetoprotein, nekonjugiran estriol in inhibin A). Namen naše naloge je bil analizirati rezultate testa, opredeliti občutljivost, specifičnost, pozitivno in negativno napovedno vrednost testa za odkrivanje trisomije 21 in 18 ter vpliv nekaterih materinih kliničnih parametrov na izračun tveganja. Metode: Retrospektivno smo zbrali rezultate četvernega testa za 3.719 vzorcev krvi nosečnic za obdobje od 1.2.2006 do 31.12.2009 na UKC Ljubljana. Pridobili smo podatke o starosti, teži in kajenju nosečnic, rezultate kariotipizacij plodov, ki so bili uvrščeni v skupino z zvečanim tveganjem in klinične podatke o novorojenčkih.Background: The second trimester quadruple screening test for foetal chromosomal abnormalities has been carried out in Slovenia since 2006. Our objective was to analyse the quadruple test results, define sensibility and specificity, the positive and negative predictive value of the screening test for trisomy 21 and trisomy 18 and the influence of some maternal clinical parameters on risk calculation. Methods: Retrospectively collected results of 3,719 maternal blood samples were analysed in the period from 1 February 2006 to 31 December 2009 at the University Medical Centre Ljubljana. We obtained information on maternal age, body weight and smoking habits, karyotyping of foetuses and clinical data on newborns. Results: The sensitivity of the test for trisomy 21 was 50 %, specificity 95 %, positive predictive value 2.3 % and negative predictive value 99.8 %. Specificity for trisomy 18 was 98 %, sensitivity 100 % and the positive and negative predictive value 1.4 % and 100% respectively. In trisomy 21, false positive results were influenced by maternal weight (OR = 1.034; p = 0.00) and age (OR = 0.832; p = 0.00), and in the case of trisomy 18 by maternal age (OR = 0.924; p = 0.17) and smoking (OR = 0.396; p = 0.006). Conclusions: A quadruple test has an appropriate specificity for detecting foetuses with trisomy 21; however, it displays a lowsensibility as well as a low positive predictive value. The test reveals high specificity and sensibility for the detection of foetal trisomy 18, and has a high negative predictive value, yet its positive predictive value remains low. Therefore, the test is primarily intended for pregnant women who,for various reasons, missed out on screening opportunities in the first trimester of their pregnancy.
Keywords     četverni presejalni test
trisomija 21
trisomija 18
kromosomske nepravilnosti