engleski

The relationship between invasive and non-invasive diagnostic in syndrome Down

AIM: To determine the correlation between the double screening test and the results of chromosomal analysis of fetal cells following amnicentesis in assesing Down's syndrome. METHODS: Prospective research involving 100 pregnant women hospitalised in maternity ward of KB "Sestre milosrdnice" in Zagreb. Amniocentesis and blood samples for a test involving two biochemical markers MS-AFP and free beta-hCG in combination with mother's age risk, were taken onthe same day. RESULTS: Amniocentesis data revealed negative karyotypes for Down' syndrome in 99 pregnant women. Out of 21 pregnant women under the age of 35, 2 showed an increased risk for Down's syndrome, according to the double test (9, 52%) and 24 out of the 78 women over 35 exhibited a higher risk (30, 77%). positive ultrasound amrkers were found in one subject over 35 ; the double screening test indicated an increased risk and cytogenetic analysis unveiled a male Down's kryotype. According to our results , the specifity of the double screening test in detecting a higher risk for Down's syndrome is 79% and sensitivity 100%. COMNCLUSIONS: Considering a high percentage of false positive results, especially in the pregnancies involving lder patients, it is neccessary to inform pregnant women about the possibilities of a double test in relation to amniocentesis, i.e. it can only serve as a screening test and not as a definitive diagnostic method. Therefore it is essential to consider each individual case on its own merits.

Double-marker screening test; Down syndrome

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