The contribution of chromosomal abnormalities in the formation of sporadic and recurrent early reproductive losses

  • I. R. Tkach
  • N. L. Huleiuk
  • D. V. Zastavna
  • G. M. Bezkorovaina
  • T. V. Fedyshyn


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.


Karr F., Ritsiotti Kh., Froynd K., Kakhan S. Akusherstvo, ginekologiia i zdorov'e zhenshchiny. Moskva: 'MEDpress-inform', 2005. 60 p. [in Russian]

Ectopic pregnancy and miscarriage: diagnosis and initial management in early pregnancy of ectopic pregnancy and miscarriage. NICE Clinical Guidelines. 2013. V. 154.

Hassold T.J. A cytogenetic study of repeated spontaneous abortions. Am J Hum Genet. 1980. V. 32(5). P. 723-730.

Warburton D., Dallaire L., Thangavelu M., Ross L., Levin B., Kline J. Trisomy recurrence: a reconsideration based on North American data. Am. J. Hum. Genet. 2004. V. 75. P. 376-385. doi: 10.1086/423331

Stirrat G.M. Recurrent miscarriage. Lancet. 1990. V. 336. P. 673-675. doi: 10.1016/0140-6736(90)92159-F

Branch D.W., Gibson M., Silver R.M. Clinical practice. Recurrent miscarriage. N. Engl. J. Med. 2010. V. 363(18). P. 1740-1747. doi: 10.1056/NEJMcp1005330.

Tang A.W., Quenby S. Recent thoughts on management and prevention of recurrent early pregnancy loss. Curr. Opin. Obstet. Gynecol. 2010. V. 22. P. 446-451. doi: 10.1097/GCO.0b013e32833e124e.

Lee R.M., Silver R.M. Recurrent pregnancy loss: summary and clinical recommendations. Semin. Reprod. Med. 2000. V. 18. P. 433-440. doi: 10.1055/s-2000-13733

Stern J.J., Dorfman A.D., Gutierez-Najar M.D. Frequency of abnormal karyotype among abortuses from women with and without a history of recurrent spontaneous abortion. Fertil. Steril. 1996. V. 65. P. 250-253. doi: 10.1016/S0015-0282(16)58079-0

Ogasawara M., Aoki K., Okada S., Suzumori K. Embryonic karyotype of abortuses in relation of previous miscarriage. Fertil. Steril. 2000. V. 73. P. 300-304. doi: 10.1016/S0015-0282(99)00495-1

Simpson J.L. Genes, chromosomes and reproductive failure. Fertil. Steril. 1980. V. 33. P. 107-116. doi: 10.1016/S0015-0282(16)44528-0

Carp H., Toder V., Aviram A., Daniely M., Mashiach S., Barkai G. Karyotype of the abortus in recurrent miscarriage. Fertil. Steril. 2001. V. 75. P. 678-682. doi: 10.1016/S0015-0282(00)01801-X

Baranov V.S. Metod striakhivaniia-otpechatyvaniia - prostoy i nadezhnyy sposob prigotovleniia priamykh khromosomnykh preperatov iz khoriona. Tsitologiia. 1989. V. 31(2). P. 251-253. [in Russian] doi: 10.1111/j.1365-2265.1989.tb01247.x

Liehr T., Pellestor F. Molecular cytogenetics: the standard FISH and PRINS procedure. Fluorescence In Situ Hybridization (FISH) - Application Guide. Liehr T., editor. Springer-Verlag, Berlin Heidelberg. 2009. P. 23-34. doi: 10.1007/978-3-540-70581-9_2

Tkach I.R., Sosnina K.O., Huleyuk N.L., Terpylyak O.I., Zastavna D.V., Weise A., Kosyakova N., Liehr T. Contribution of chromosomal abnormalities and genes of the major histocompatibility complex to early pregnancy losses. Biopolymers and Cell. 2015. V. 31(1). P. 38-45. doi: 10.7124/bc.0008CB