Avtor/Urednik     Brezigar, Ana-Marija; Novak-Antolič, Živka; Osredkar, Joško; Tul, Nataša; Verdenik, Ivan
Naslov     Evaluation of second trimester maternal serum screening test for Down's syndrome and for prediction of other complications
Prevedeni naslov     Prosudba probiranja iz seruma trudnica u drugom tromjesečju za predviđanje Downova sindroma i drugih komplikacija trudnoće
Tip     članek
Vir     Gynaecol Perinatol
Vol. in št.     Letnik 8, št. 1
Leto izdaje     1999
Obseg     str. 11-4
Jezik     eng
Abstrakt     Objective: To evaluate the second trimester maternal serum screening test for the detection of Down's syndrome other complications in pregnancy and possibilities of implementation of the test. Study design: The median values of markers for Down's syndrome alpha fetoprotein, chorionic gonadotrophin and unconjugated estriol, were defined for our populntion in a retrospective study. The results were interpreted by Alpha and Prenata sofware programmes. In a prospective trial 1042 serum samples were measured. When the assigned risk was >=1/190, genetic counselling and prenatal karyotyping were offered. We prospectively evaluated 385 sera obtained before amniocentesis, too. Results: The tests were positive in 69 of the 1042 (6.6%) pregnant women; 87% women accepted amniocentesis. Two cases of trisomy-21 and one balanced translocation were identified. There have been no false negative results yet. Among 385 pregnant women over 35 years, 71 (18.4%) were assigned to the high risk group in which 2 cases of Down's syndromc,1 Klinefelter syndrome and 1 triploidy were identified; 2 cases of trisomy-18 were in low risk group. Conclusion: Screening test increases the detection of Down's syndrome. Yet it should be emphasised that false positive results are equally important in detecting increased preterm deliveries rate, restriction of fetal growth and other complications. A special problem presents the implementation of the screening test. Effective ultrasound or serum markers screcning tests in the first trimester would undoubtedly be available in the near future.
Deskriptorji     PRENATAL DIAGNOSIS
DOWN SYNDROME
PREGNANCY TRIMESTER, SECOND
PREGNANCY
ALPHA-FETOPROTEINS
GONADOTROPINS, CHORIONIC
ESTRIOL
MASS SCREENING
AMNIOCENTESIS