Внесок хромосомних аномалій в генез спорадичних та звиклих ранніх репродуктивних втрат

І. Р. Ткач, Н. Л. Гулеюк, Д. В. Заставна, Г. М. Безкоровайна, Т. В. Федишин

Анотація


Aim. The aim of the present study was to investigate the contribution of numerical chromosomal imbalances in products of conception from sporadic pregnancy loss (SPL) and recurrent pregnancy loss (RPL). Methods. Banding cytogenetic and interphase mFISH with the probe panel for chromosomes 13, 14, 15, 16, 17, 18, 21, 22, X and Y. Results. Cytogenetic studies of 419 spontaneously aborted fetuses were performed. The results were stratified in 3 groups according to anamnesis: Group I and II – SPL, Group III – RPL. The contribution of chromosomal aberrations was higher in the genesis of SPL (39.9 %) compared to RPL (27.1 %). Among most often diagnosed chromosomal change was triploidy – 27.19 % in SPL vs 27.78 % in RPL, monosomy X – 21.93 % vs 22.22 % and trisomy 16–18.42 % vs 19.44 %. Conclusions.Consequently, detection of chromosomal aneuploidies in samples from products of conception plays a key role to find out about reasons of reproductive failure in humans.

Keywords: sporadic pregnancy loss, recurrent pregnancy loss, banding cytogenetic, interphase multicolor fluorescence in situ hybridization (mFISH), chromosome abnormalities.


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