Abstract
Introduction: Due to its reliability and relatively low risk, amniocentesis is the most widely used method of prenatal diagnostics, primarily for diagnostics of chromosomal aberrations. Each country has its own specificity in the indications for amniocentesis, and therefore different results. Aim of the Study: The aim of the study was to analyze the results of amniocentesis performed at the University Clinical Centre of the Republic of Srpska by investigating the distributions of indications for amniocentesis, cytogenetic findings and abnormality rate according to indications. Patients and Methods: The study retrospectively and prospectively analyzed 3994 cases of amniocentesis performed at the University Clinical Centre of the Republic of Srpska between 2009 and 2014. Cytogenetic findings were grouped according to referral indication. The positive predictive value was calculated for each indication. Results: The most common indications for amniocentesis were advanced maternal age and abnormal screening markers in maternal serum. Overall abnormality rate was 2.35%. The most frequently found chromosomal aberrations were trisomy 21 and balanced reciprocal translocation. The highest positive predictive value had indications parent carrier of chromosomal aberrations and abnormal ultrasound findings. Far from the expected positive predictive value had indications abnormal screening markers in maternal serum and a family history of chromosomal aberrations or congenital anomalies. Conclusion: Amniocentesis is a feasible tool for detecting fetal chromosomal aberrations and is mostly performed because of advanced maternal age. Analyzing the results of amniocentesis could help us to improve prenatal detection rate of chromosomal aberrations and give us useful database for proper genetic counseling of pregnant women.
Highlights
Due to its reliability and relatively low risk, amniocentesis is the most widely used method of prenatal diagnostics, primarily for diagnostics of chromosomal aberrations
Amniocentesis is a feasible tool for detecting fetal chromosomal aberrations and is mostly performed because of advanced maternal age
The aim of the study was to analyze the results of amniocentesis performed at the University Clinical Centre of the Republic of Srpska in the first five years, from January 2009 to January 2014, by investigating the distributions of indications, cytogenetic findings and abnormality rate according to indications
Summary
Due to its reliability and relatively low risk, amniocentesis is the most widely used method of prenatal diagnostics, primarily for diagnostics of chromosomal aberrations. Chromosomal aberrations are changes in the number or structure of chromosomes. They play an important role in human morbidity and mortality.[1,2] They occur in 4% of all clinically recognized pregnancies, in half of miscarriages, in 5% of stillbirths and in 0.5% - 1% of live births.[3] Chromosomal aberrations cause 20%-30% of all infant deaths. The most common prenatally detected chromosomal aberrations are: trisomy 21 (syndrome Down), trisomy 18, trisomy 13, monosomy X and 47,XXY. Other numerical and various structural chromosomal aberrations, balanced and unbalanced, are rare
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