Author/Editor | Tul, Nataša | |
Title | Presejalni hormonski testi za Downov sindrom | |
Translated title | Hormonal screenig tests for Down syndrome | |
Type | članek | |
Source | Med Razgl | |
Vol. and No. | Letnik 36, št. 4 | |
Publication year | 1997 | |
Volume | str. 523-37 | |
Language | slo | |
Abstract | Down syndrome is the most common individual cause of mental retardation in children. prenatal screening for Down syndrome, based on the maternal age, has been practised in Slovenia since 1981. Between 1987 and 1994, Down syndrome was diagnosed prenatally in merely 17% of infants. In 1995, triple-marker testing for the second trimester prenatal diagnosis of Down syndrome was introduced. Using this method we measured alpha-fetoprotein, human chorionic gonadotrophin and unconjugated estriol in maternal blood, and estimated the pregnant woman's risk of carrying a baby with Down syndrome. The expected percentage of detected Down syndrome cases is approximately 60% with the rate of false positive results being 5 to 7%. The paper describes some practical aspects of the test, and presents pregnancy complications after a false-positive screen for Down syndrome. The paper describes a screening method using ultrasound measurements of fetal nuchal translucency, and new laboratory tests, likely to become useful tools of prenatal diagnosis of Down syndrome in the future. | |
Summary | Downov sindrom je najpogostejši posamezni vzrok za duševno zaostalost otrok. Prenatalno odkrivanje poteka v Sloveniji z amniocentezo in kariotipizacijo od leta 1981, in sicer s presejanjem na podlagi starosti matere. V letih 1987-94 smo prenatalno odkrili le 17% plodov z Downovim sindromom. Leta 1995 smo začeli s presejanjem s trojnim hormonskim testom v drugem trimesečju enoplodnih nosečnoti. v materini krvi določimo vrednosti alfafetoproteina, humanega horionskega gonadotropina in nekonjugiranega estriola ter izračunamo tveganje za rojstvo otroka z Downovim sindromom. Pričakujemo, da bomo odkrili približno 60% plodov z Downovim sindromom ob 5-7% lažno pozitivnih rezultatov. V članku predstavljamo praktične vidike testa in opisujemo hormone, ki jih določamo. Posebej opisujemo zaplete, ki se pojavljajo pri nosečnicah, ki so lažno vključene v skupino z visokim tveganjem za rojstvo otroka z Downovnim sindromom. Opisano je tudi presejanje z merjenjem nuhalne svetline in laboratorijske metode, ki bodo morda uporabne v prihodnosti. | |
Descriptors | PRENATAL DIAGNOSIS DOWN SYNDROME ALPHA-FETOPROTEINS GONADOTROPINS, CHORIONIC ESTRIOL PREGNANCY MASS SCREENING MATERNAL AGE 35 AND OVER TRISOMY FALSE POSITIVE REACTIONS COUNSELING |