Abstract

Introduction: The aim of prenatal diagnosis is to detect fetal structural and genetic abnormalities. Used are different medical methods, procedures, processes and techniques. For this reason we can speak about the prevention and detection of hereditary diseases and congenital anomalies in the unborn fetus. Material and methods: The authors analyzed the results of early amniocentesis tests performed during 2009 in Institute for Gynecology, Infertility and Perinatology “Mehmedbasic” in Sarajevo. Performed is 299 analysis of amniotic fluid after amnion puncture done in the Institute or at the Clinic of Gynecology and Obstetrics (GAK) Sarajevo. Results and Discussion: Indications for the performance of early amniocentesis were: age greater over 35 (84.9%), positive ultrasound markers (1.6%), positive biochemical markers (5.6%) and positive family history for hereditary diseases (7.9%). Detected was 19 pathological cariograms or very high 7% of the total annual number of amniocentesis. An analysis of the distribution of pregnant women in relation to the indication of the result of cytogenetic analysis for each table made ​​positive predictive value (PPV). For indicator age PPV was 0.11, 0.66 for ultrasound markers, for biochemical markers 0.13, for other indications–0.04. The logistic regression model (odds -ratio 11.234 ) indicate a positive ultrasound findings in relation to the year indicates that the risk to gain abnormal fetal karyotype 13 times higher when using only age as an indication for early amniocentesis. Of the 19 pathological cariogram largest number refers to M.Down (10), Sy. Edwards was detected in 2 patients, Sy. Klinefelter in 3, mosaicism in 3 and translocation gene in two of the fetus. Conclusion: The authors would like to acknowledge a very high percentage of pathological cariogram risk groups, the extension of indications for RAC indicate the value of ultrasound markers as a good screening methods and the need for social incentives to perform screening tests and early amniocentesis in B&H in order to prevent genetic abnormalities.

Key words: prenatal diagnostics, early amniocentesis, genetic abnormalities.