Author/Editor     Pušenjak, Stanko; Novak-Antolič, Živa; Tul, Nataša; Brezigar, Anamarija; Geršak, Ksenija; Osredkar, Joško
Title     Prenatalno odkrivanje Downovega sindroma s presejalnimi testi v zgodnji nosečnosti
Translated title     Prenatal screening tests for Down syndrome in early pregnancy
Type     članek
Source     Zdrav Vars
Vol. and No.     Letnik 37, št. 11-12
Publication year     1998
Volume     str. 523-6
Language     slo
Abstract     Early amniocentesis is globally most often used for the detection of Down syndrome (DS) in pregnant women after 35 years of age. Ideally, this test discovers 30% of DS, but 70% of children with DS are born, however, to the women younger than 35 years. 1% of abortion rate after karyotyping, rare incidence of DS in young women and high price do not allow the implementation of karyotyping in all the pregnant women. perinatologists all over the world are therefore in search of a screening test, which would bring the detection of DS to more acceptable values. A few tenths of US characteristics of fetuses and biochemical markers in serum of of pregnant women have already been discovered, which in a higher percent appear in fetuses with DS. Lately, the triple hormonal test (THT) and nuchal translucency (NT) are gaining the priority. Both enable 2-3 times better detection as the present karyotyping in pregnant women after 35 years of age. Ethical problems and new stressfull situations arise due to falsely positive and falsely negative screening results. In such cases the consulting poses high demands as the falsely positive test results for DS can present a bigger risk for other defects in fetus development or pregnancy complications.
Summary     Za odkritje Downovega sindroma (DS) v nosečnosti v svetu najpogosteje uporabljajo zgodnjo amniocentezo po 35. letu starosti nosečnice. Ta test odkrije v idealnih okoliščinah 30% DS. 70% otrok z DS pa rodijo ženske, mlajše od 35 let. Enoodstotna splavnost po kariotipizaciji, redka incidenca DS pri mladih ženskah in visoka cena ne dopuščajo kariotipizacije pri vseh nosečnicah. Zato perinatologi po svetu iščejo presejalni test, ki bi približal odkrivanje DS sprejemljivejšim vrednostim. Odkrili so že več deset značilnosti, opaznih z UZ, plodov, in biokemičnih označevalcev v serumu nosečnic, ki se v večjem odstotku pojavljajo pri plodovih z DS. V zadnjem času se v osperdje pebijata trojni hormonski test (THT) in nuhalna svetlina (NS). Oba omogočata 2- do 3-krat boljše odkrivanje DS kot trenutno kariotipizacija po 35. letu starosti nosečnice. Pri tem pa nastajajo etični pomisleki in nove stresne situacije ob lažno pozitivnih in lažno negativnih izvidih presejanja. Svetovanje v takšnih primerih je zahtevno, saj lažno pozitivni izvid testa za DS lahko pomeni večje tveganje za druge nepravilnosti v razvoju plodu ali zaplete v nosečnosti.
Descriptors     DOWN SYNDROME
PRENATAL DIAGNOSIS
MASS SCREENING
PREGNANCY
HORMONES
ETHICS, MEDICAL