Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases

• DOI: 10.5146/tjpath.2014.01280
• Publication Date: 2014-10-03T02:44:07Z
• Authors: Sezin Yakut; Zafer Cetin; Mehmet Simsek; Ibrahim Inanc Men...; Havva Serap Toru; Sibel Berker Kara...; Guven Luleci
• Keywords: Amniocentesis; Chorionic villus sampling; Abnormality

Objective:The aim of this study was presentation the ultrasonographic findings and perinatal autopsy cases with rare chromosomal abnormalities. Material Method:A total 10125 prenatal over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, 421 fetal blood sampling were evaluated for cytogenetic diagnosis.Conventional studies, fluorescence in situ hybridization Array-CGH analysis techniques used genetic analysis.Results: A structural abnormality observed 95 cases.The most frequently abnormalities balanced translocations a frequency 53.7% (51 cases) followed by unbalanced (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions ring (2.1%) complex translocation (1.1%).rare de novo translocations, inversions, duplications, deletions, chromosomes, detected 24 cases. Conclusion:The rate varies from 2.4% (South east Ireland) to 12.9% (northern england) europe 7.4/10 000 births.In our study, overall diagnosis 3.7%, similar South Ireland.ultrasonographic are important proper counseling further