Author/Editor		Premru-Sršen, Tanja
Title		Presejalni in diagnostični testi za kromosomopatije: slovenska zakonodaja, pravice nosečnic in svetovanje pred, med in po testiranju
Type		članek
Source		In: Novak-Antolič Ž, editor. Zbornik prispevkov Srebrni jubilej perinatalne medicine v Sloveniji; 2001 nov 14; Ljubljana. Ljubljana: Združenje za perinatalno medicino,
Publication year		2001
Volume		str. 16-29
Language		slo
Abstract		In Slovenia the fetuses with Down syndrome and other chromosomal abnormalities are detected with screening tests in low-risk women, whereas in high-risk women these abnormalities are detected with diagnostic tests. In Slovenia, pregnant women are considered at high risk when aged 37 years or more, and if chromosomal abnormalities are present in their family history. Other pregnant women are considered to be at low risk. Screening tests for detection of chromosomal abnormalities available in Slovenia are nuchal translucency in the first trimester, and triple test and ultrasound screening in the second trimester. Diagnostic tests available in Slovenia are chorionic villi sampling between the 11 th and 14th gestational week, amniocentesis between the 16th and 18th gestational week, and cordocentesis and placentocentesis after the 20th gestational week. The low-risk pregnant women wishing to undergo prenatal diagnosis, although having no indication for it, should pay for the procedure. Should the finding be positive, the woman is considered at high risk. To the pregnant women aged 37 - 39 years, one of the screening tests is paid by health insurance, nuchal translucency or triple test. To the women at high risk one of the diagnostic tests is paid for. Counselling regarding the rights of the woman as well as the possibilities for detection of fetal chromosomal abnormalities, efficacy and risks involved, is extremely important. The aim of screening for chromosomal abnormalities is not merely to prevent deliveries of babies with Down syndrome, but also to reduce anxiety in the woman with negative finding and thus calm her, and to provide thorough counselling to the woman with positive finding, i.e. with a detected abnormality, especially to the one who is determined not to terminate pregnancy.
Descriptors		PRENATAL DIAGNOSIS CHROMOSOME ABNORMALITIES FETAL DISEASES ANEUPLOIDY GENETIC COUNSELING MASS SCREENING PREGNANCY PREGNANCY, HIGH-RISK MATERNAL AGE 35 AND OVER ULTRASONOGRAPHY, PRENATAL DOWN SYNDROME AMNIOCENTESIS CORDOCENTESIS LEGISLATION, MEDICAL