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2015, Volume 31, Number 1, Page(s) 036-044     
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DOI: 10.5146/tjpath.2014.01280
Rare Structural Chromosomal Abnormalities in Prenatal Diagnosis; Clinical and Cytogenetic Findings on 10125 Prenatal Cases
Sezin YAKUT1, Zafer ÇETİN1, Mehmet ŞİMŞEK2, İbrahim İnanç MENDİCİOĞLU2, Havva Serap TORU3, Sibel BERKER KARAÜZÜM1, Güven LÜLECİ1
1Department of Medical Biology and Genetics, Akdeniz University, School of Medicine, ANTALYA, TURKEY
2Department of Obstetrics and Gynecology, Akdeniz University, School of Medicine, ANTALYA, TURKEY
3Department of Pathology, Akdeniz University, School of Medicine, ANTALYA, TURKEY
Keywords: Prenatal diagnosis, Cytogenetics, Chromosomal aberrations, Autopsy

Objective: The aim of this study was presentation of the ultrasonographic findings and perinatal autopsy of cases with rare chromosomal abnormalities.

Material and Method: A total of 10125 prenatal cases over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, and 421 fetal blood sampling cases were evaluated for prenatal cytogenetic diagnosis. Conventional cytogenetic studies, fluorescence in situ hybridization studies, and Array-CGH analysis techniques were used for genetic analysis.

Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). Rare structural chromosomal abnormalities including de novo balanced translocations, unbalanced translocations, inversions, duplications, deletions, ring chromosomes, and supernumerary marker chromosomes were detected in 24 cases.

Conclusion: The rate of rare chromosomal abnormalities varies from 2.4% (South East Ireland) to 12.9% (Northern England) in Europe with a total rate of 7.4/10 000 births. In our study, the overall rate of chromosomal abnormality in prenatal cytogenetic diagnosis was 3.7%, similar to South East Ireland. Ultrasonographic and perinatal autopsy findings of the cases with rare structural chromosomal abnormalities are important for proper genetic counseling for further similar cases.

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