Author/Editor		Tul-Mandić, Nataša
Title		Presejalni testi za kromosomopatije
Translated title		Screening tests for chromosomal anomalies
Type		članek
Source		Med Razgl
Vol. and No.		Letnik 44, št. Suppl 2
Publication year		2005
Volume		str. 155-64
Language		slo
Abstract		Nowadays, chromosomopathies are among important causes of perinatal mortality and the main reason for mental retardation in children. The objective of using screening tests is to detect pregnant women with a high risk of fetal chromosomopathies and to provide them with appropriate diagnostic tests. At the beginning of the 1980's, screening based on the pregnant woman's age became established, which detects up to 30% of fetuses with trisomy 21, and later triple test screening in the second trimester became widely used, which detects 50-70% of fetuses with T21. In the 1990's, screening tests were moved to the first trimester. Ultrasound measurement of the nuchal translucency is a screening test which is suitable for all pregnant women between the 11th and 14th week of pregnancy and reveals 70-80 % of fetuses with trisomy 21. Currently the most effective screening test is the one taking into account the pregnant woman's age, values of fbetahCG and PAPP-A in the pregnant woman's serum and nuchal translucency, as well as presence of nasal bone in fetuses. Using this test, it is possible to detect 97% of fetuses with trisomy 21 with a 5% rate of false positive results. Pregnant women who are ranked into the group with increased risk of chromosomopathies based on any screening test should have diagnostic tests performed. Before screening and diagnostic tests are used, however, pregnant women should receive appropriate counselling.
Summary		Kromosompatije so danes eden pomembnejših vzrokov za perinatalno umrljivost ter glavni vzrok za duševno prizadetost otrok. S presejalnimi testi želimo poiskati nosečnice z velikim tveganjem za kromosomopatije pri plodu in jim omogočiti diagnostične teste. V začetku osemdesetih letih 20. stoletja se je uveljavilo presejanje na podlagi starosti nosečnice, s katerim odkrijemo do 30% plodov s trisomijo 21, kasneje pa se je uveljavilo presejanje s trojnim hormonskim testom v drugem trimesečju, s katerim odkrijemo 50-70% plodov s trisomijo 21. V devetdesetih letih se je presejanje pomaknilo v prvo trimesečje. IJltrazvočno merjenje nuhalne svetline je presejalni test, ki je primeren za vse nosečnice med 11. in 14. tednom nosečnosti, z njim odkrijemo 70-80 % plodov s trisomijo 21. Trenutno najučinkovitejši presejalni test je test, ki upošteva starost nosečnice, vrednosti fbetahCG in PAPP-A v serumu nosečnice ter merjenje nuhalne svetline in prisotnost nosne kosti pri plodu. Z njim je mogoče odkriti 97% plodov s trisomijo 21 ob 5% lažno pozitivnih rezultatov. Nosečnicam, ki jih katerikoli presejalni test uvrsti v skupino s povečanim tveganjem za kromosomopatije, moramo omogočiti diagnostične teste. Pred uporabo presejalnih in diagnostičnih testov morajo biti nosečnice deležne ustreznega svetovanja.
Descriptors		PRENATAL DIAGNOSIS DOWN SYNDROME MASS SCREENING PREGNANCY