Cytogenetic analysis of 2554 samples of the products of conception from early reproductive losses

  • I. R. Tkach State Institution «Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0002-8370-6935
  • N. L. Huleyuk State Institution «Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0001-7697-4117
  • D. V. Zastavna State Institution «Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0002-3858-7180
  • G. M. Bezkorovaina State Institution «Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a https://orcid.org/0000-0002-1940-9928
  • N. V. Helner State Institution «Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine», Ukraine, 79008, Lviv, M. Lysenko str., 31a
  • O. V. Benko Municipal non-profit enterprise "3rd city clinical hospital of Lviv", Ukraine, 79000, Lviv, Rusovykh str, 4
DOI: https://doi.org/10.7124/FEEO.v35.1662
Keywords: early reproductive loss, chorionic villi, chromosomal abnormalities

Abstract

Aim. Early pregnancy losses (EPL), to some extent, can be considered a mechanism of natural selection that prevents the development of defective fetuses, since it is believed that even up to 80 % of the causes have genetic disorders. Among the genetic factors of EPL karyotype disorders should be included first of all. Overall, up to 50 % of early miscarriages are caused by karyotype abnormalities. The purpose of this study was studied the contribution of chromosomal abnormalities to the genesis of EPL. Methods. Banding cytogenetic and interphase mFISH with the centromeric probe panel for chromosomes 13, 14, 15, 16, 17, 18, 20, 21, 22, X and Y were used. Results. Were examined 2554 cases of material of early reproductive loss. A normal karyotype was established in 1638 cases (64.1 %), and a pathological karyotype in 916 (35.9 %). Karyotype abnormalities are as follows: autosomal aneuploidy – 478 (52.2 %), polyploidy – 256 (27.9 %), gonosomal aneuploidy – 182 (19.9 %). Conclusions. Among autosomal aneuploidies prevailed trisomy 16 (26.9 %), among polyploidy – triploidy (24.6 %) and among gonosomal aneuploidy – monosomy X (18.4 %).

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