Journal of Assisted Reproduction and Genetics

, Volume 33, Issue 11, pp 1481–1486 | Cite as

The effect of chromosomal polymorphisms on the outcomes of fresh IVF/ICSI–ET cycles in a Chinese population

  • Xiaojuan Xu
  • Rui Zhang
  • Wei Wang
  • Hongfang Liu
  • Lin Liu
  • Bin Mao
  • Xiangwu Zeng
  • Xuehong Zhang



Chromosomal polymorphisms (CPs) have been reported to be associated with infertility; however, their effects on the outcomes of in vitro fertilization/intracytoplasmic sperm injection–embryo transfer (IVF/ICSI–ET) are still controversial. In this retrospective study, we aimed to evaluate the effect of CPs on IVF/ICSI–ET outcomes.


To investigate whether CPs affected the outcomes of fresh IVF/ICSI–ET cycles in a Chinese population, we evaluated infertile couples with male carriers of CPs (n = 348), infertile couples with female carriers (n = 99), and unaffected couples (n = 400) who had received their first treatment cycles in our hospital between January 2013 and March 2015.


CPs in either male or female carriers seemed to have adverse effects on IVF/ICSI–ET outcomes. CPs in male carriers affected outcomes mainly by decreasing the rates of fertilization, embryo cleavage, good quality embryos, clinical pregnancies, ongoing pregnancies, and deliveries as well as increasing the biochemical pregnancy rate (P < 0.05); CPs in female carriers affected outcomes only by lowering the embryo cleavage rate (P < 0.05). The mean fertilization rate of couples with male CP carriers undergoing IVF was significantly lower than that in those undergoing ICSI (61.1 versus 66.5 %, respectively; P = 0.0004).


Our data provide evidence for the involvement of CPs in the poor outcomes of fresh IVF/ICSI–ET cycles in a Chinese population. The use of ICSI might improve outcomes by increasing the fertilization rate for men with CPs.


Chromosomal polymorphisms Clinical outcomes IVF/ICSI cycles Fertilization rate Cleavage rate 



We thank the patients and their families for agreeing to participate in this study and colleagues whose participation made this project possible. We also thank Jinzhu Zhao, Bo Deng, and Lanlan Liang for establishing the patient archives and Lanying Li for the patient follow-up. We appreciated the help and advice of our colleagues. This study was supported by the National Natural Science Foundation of China (grant numbers 313010232 and 81401261).

Compliance with ethical standards

All procedures performed in studies involving human participants were in accordance with the ethical standards of the ethics committee of the Reproductive Medicine Hospital of the First Hospital of Lanzhou University and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. For this type of study, formal consent of the ethics committee was not required.

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.


This study was supported by the National Natural Science Foundation of People’s Republic of China (grant numbers 313010232 and 81401261).

Supplementary material

10815_2016_793_MOESM1_ESM.pdf (49 kb)
ESM 1 ᅟ(PDF 48 kb)


  1. 1.
    Wyandt HE, Tonk VS. Human chromosome variation: heteromorphism and polymorphism. Berlin: Springer; 2011.Google Scholar
  2. 2.
    Schaffer LG, McGowan-Jordan J, Schmid M. ISCN 2013: an International System for Human Cytogenetic Nomenclature (2013), published in collaboration with ‘Cytogenetic and Genome Research’ 2012.Google Scholar
  3. 3.
    Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet. 2006;38(4):463–7. doi: 10.1038/ng1754.CrossRefPubMedGoogle Scholar
  4. 4.
    Liang J, Zhang Y, Yu Y, Sun W, Jing J, Liu R. Effect of chromosomal polymorphisms of different genders on fertilization rate of fresh IVF-ICSI embryo transfer cycles. Reprod BioMed Online. 2014;29(4):436–44. doi: 10.1016/j.rbmo.2014.06.011.CrossRefPubMedGoogle Scholar
  5. 5.
    Ghosh PK, Bhatia S, Chatterjee B, Bhatnagar A, Sharma JK, Ghosh R. Chromosome heteromorphism in couples with repeated spontaneous abortions. Indian J Med Res. 1983;77:472–7.PubMedGoogle Scholar
  6. 6.
    Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod BioMed Online. 2005;11(6):726–32.CrossRefPubMedGoogle Scholar
  7. 7.
    Hsu LY, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. Am J Med Genet. 1987;26(1):95–101. doi: 10.1002/ajmg.1320260116.CrossRefPubMedGoogle Scholar
  8. 8.
    Hong Y, Zhou YW, Tao J, Wang SX, Zhao XM. Do polymorphic variants of chromosomes affect the outcome of in vitro fertilization and embryo transfer treatment? Hum Reprod. 2011;26(4):933–40. doi: 10.1093/humrep/deq333.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Sahin FI, Yilmaz Z, Yuregir OO, Bulakbasi T, Ozer O, Zeyneloglu HB. Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet. 2008;25(5):191–5. doi: 10.1007/s10815-008-9216-3.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Minocherhomji S, Athalye AS, Madon PF, Kulkarni D, Uttamchandani SA, Parikh FR. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype. Fertil Steril. 2009;92(1):88–95. doi: 10.1016/j.fertnstert.2008.05.071.CrossRefPubMedGoogle Scholar
  11. 11.
    Sipek Jr A, Mihalova R, Panczak A, Hrckova L, Janashia M, Kasprikova N, et al. Heterochromatin variants in human karyotypes: a possible association with reproductive failure. Reprod BioMed Online. 2014;29(2):245–50. doi: 10.1016/j.rbmo.2014.04.021.CrossRefPubMedGoogle Scholar
  12. 12.
    Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, et al. Chromosomal variants among 1790 infertile men. Int J Urol. 2001;8(2):49–52.CrossRefPubMedGoogle Scholar
  13. 13.
    Hemming L, Burns C. Heterochromatic polymorphism in spontaneous abortions. J Med Genet. 1979;16(5):358–62.CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Kihaile PE, Yasui A, Shuto Y. Prospective assessment of Y-chromosome microdeletions and reproductive outcomes among infertile couples of Japanese and African origin. J Exp Clin Assist Reprod. 2005;2:9. doi: 10.1186/1743-1050-2-9.CrossRefPubMedPubMedCentralGoogle Scholar
  15. 15.
    Guo T, Qin Y, Gao X, Chen H, Li G, Ma J, et al. The role of male chromosomal polymorphism played in spermatogenesis and the outcome of IVF/ICSI-ET treatment. Int J Androl. 2012;35(6):802–9. doi: 10.1111/j.1365-2605.2012.01284.x.CrossRefPubMedGoogle Scholar
  16. 16.
    Xiao Z, Zhou X, Xu W, Yang J. A preliminary study of the relationship between the long arm of the Y chromosome (Yqh+) and reproductive outcomes in IVF/ICSI-ET. Eur J Obstet Gynecol Reprod Biol. 2012;165(1):57–60. doi: 10.1016/j.ejogrb.2012.07.004.CrossRefPubMedGoogle Scholar
  17. 17.
    Traldi JB, Vicari MR, Blanco DR, Martinez Jde F, Artoni RF, Moreira-Filho O. First karyotype description of Hypostomus iheringii (Regan, 1908): a case of heterochromatic polymorphism. Comp Cytogenet. 2012;6(2):115–25. doi: 10.3897/CompCytogen.v6i2.2595.CrossRefPubMedPubMedCentralGoogle Scholar
  18. 18.
    Leach TJ, Chotkowski HL, Wotring MG, Dilwith RL, Glaser RL. Replication of heterochromatin and structure of polytene chromosomes. Mol Cell Biol. 2000;20(17):6308–16.CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Gerton JL, Hawley RS. Homologous chromosome interactions in meiosis: diversity amidst conservation. Nat Rev Genet. 2005;6(6):477–87. doi: 10.1038/nrg1614.CrossRefPubMedGoogle Scholar
  20. 20.
    Yakin K, Balaban B, Urman B. Is there a possible correlation between chromosomal variants and spermatogenesis? Int J Urol. 2005;12(11):984–9. doi: 10.1111/j.1442-2042.2005.01185.x.CrossRefPubMedGoogle Scholar
  21. 21.
    Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423(6942):825–37. doi: 10.1038/nature01722.CrossRefPubMedGoogle Scholar
  22. 22.
    Nielsen J. Large Y, chromosome (Yq+) and increased risk of abortion. Clin Genet. 1978;13(5):415–6.CrossRefPubMedGoogle Scholar
  23. 23.
    Genest P. Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions. Clin Genet. 1979;16(6):387–9.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.The Reproductive Medicine Hospital of the First Hospital of Lanzhou UniversityLanzhouChina
  2. 2.Department of SurgeryPeople’s HospitalMinqinChina

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