Objectives: In this study, we investigate fetal chromosome analysis results of 328 cases referred to Medical Biology and Genetic Department Laboratory, İnönü University between October 2005-August 2007 period.
Methods: 311 amniocentesis and 17 fetal blood sample include 328 cases examined cytogenetic finding. The main indications for amniocentesis and fetal blood sample included advanced maternal age, abnormal maternal serum screening results, and abnormal children story findings.
Results: A total of 328 cases were performed and analyzed for chromosome aberrations. Among these, the highest detection rate of chromosome aberrations were amniocentesis, 5 (1.60%) cases with numerical aberrations, one case with Turner syndrome (0.32%), four cases with trisomy 21 (1.28%) and 2 (0.64%) cases with structural aberrations, one case with Y chromosome heterochromatin polymorphism (0.64%), and one case with Robertsonian translocation (0.64%). Among fetal blood samples, there were 2 (11.76%) cases with chromosomal aberrations, and one case with 46,XX/46,XY.
Conclusions: In our observations, in concordant with literature cases with chromosome aberrations were related with advantage maternal age.
Key Words: Amniocentesis, Cytogenetic, Chromosome aberrations
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