Prenatal Genetic Diagnosis in 481 Amniocentesis, Chorion Villi Sample and Cordocentesis Specimens

• Main Authors: Turgay Budak, M. Nail Alp, Ayşegül Türkyılmaz
• Format: Article
• Language: English
• Published: Dicle University Medical School 2007-01-01
• Series: Dicle Medical Journal
• Subjects: Prenatal Diagnosis; Chromosome Analysis; Chromosomal Abnormality.
• Online Access: http://4181.indexcopernicus.com/fulltxt.php?ICID=887704

In this study, we evaluated a total of 481 amniocentesis , cordocentesis and corion villi sample specimens from patients who were referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle, between 1999 and 2001. A total of 24 specimens were found cytogenetically abnormal, of which 11 were trisomy 21 ( Down Syndrome), two were Down Syndrome with Robertsonian type of translocation between chromosome 14 and 21, one was mosaic Down Syndrome , one was balanced translocated chromosome carrier, two were Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy 3, one was derivative chromosome, one was nonrepetitive numerical and structural abnormality, and one was marker chromosome. Unfortunately, we could not have results in 15 of culture samples. There were no false positive and false negative results.