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Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization.

Azmanov DN, Milachich TV, Zaharieva BM, Michailova GI, Dimitrova VG, Karagiozova ZH, Maznejkova VT, Chernev TA, Toncheva DI

Department of Medical Genetics, University Hospital Maichin Dom, Medical Faculty, Medical University, 1431 Sofia, Bulgaria.

OBJECTIVE: To determine the frequency and type of chromosomal aberrations in different gestational age spontaneous abortions. STUDY DESIGN: In the study, 106 spontaneous abortions (SAs) were studied by comparative genomic hybridization. RESULTS: The frequency of detected chromosomal aberrations was 37.7%. Numerical chromosomal aberrations were disclosed in 82.5% of the aberrant cases, while structural chromosomal aberrations-in 17.5%. Highest frequency of aberrations was detected in the blighted ovum specimens (62.5%) compared to missed and second trimester SAs (respectively, 36.0% and 34.8%). With regard to structural aberrations, the difference in the frequencies between blighted ovum specimens and second trimester SAs nearly reached statistical significance (p=0.0847). However, due to the low number of blighted ovum specimens analyzed (n=8), this result should be interpreted with due caution. The most frequently affected chromosomal arms were Xp and Xq (13.7% of aberrant chromosomal arms, each), followed by 16p (8.4%), 16q (8.4%), 15q (4.2%) and 19q (4.2%). CONCLUSIONS: We describe for the first time a profile of chromosomal aberrations in SAs from different gestational ages, detected by CGH. Our results showed highest frequency of chromosome aberrations in blighted ovum specimens compared to other types of spontaneous abortions, higher rate of structural aberrations than reported before (17.5%) and some aberrations that so far were not found by CGH.

Published 27 March 2007 in Eur J Obstet Gynecol Reprod Biol, 131(2): 127-31.
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