Skip to main content
SpringerLink
Log in

Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The aim of this study was to evaluate the incidence of an inter-chromosomal effect (ICE) in blastocyst-stage embryos from carriers of balanced chromosome inversions.

Methods

Infertility patients (n = 52) with balanced inversions (n = 66 cycles), and maternal age-matched controls that concurrently cycled (n = 66), consented to an IVF cycle with preimplantation genetic testing for aneuploidy (PGT-A). Blastocyst-stage embryos underwent trophectoderm biopsy for PGT-A with only euploid blastocysts transferred in a subsequent frozen embryo transfer. Subtypes of inversions were included in aggregate: paracentric/pericentric, polymorphic/non-polymorphic, male/female carriers, and varying inversion sizes.

Results

The incidence of aneuploidy was not significantly higher for the inversion patients compared to the controls (inversion = 48.8% vs. control = 47.2% ns). Following euploid blastocyst transfer, there were excellent live birth outcomes.

Conclusions

Carriers of balanced chromosome inversions did not exhibit higher aneuploidy rates for chromosomes that were not involved in the inversion compared to maternal age-matched controls, signifying the absence of an inter-chromosomal effect for this data set. These results provide the largest investigation of blastocyst embryos regarding the debated existence of an ICE resulting from the presence of an inversion during meiosis. However, further studies are warranted to investigate an ICE among inversions subtypes that were outside the scope of this study.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Campana M, Serra A, Neri G. Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet. 1986;24:341–56.

    Article  CAS  PubMed  Google Scholar 

  2. Fryns JP, Van Buggenhout G. Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol. 1998;81:171–6.

    Article  CAS  PubMed  Google Scholar 

  3. Collinson MN, Fisher AM, Walker J, Currie J, Williams L, Roberts P. Inv(10)(p11.2q21.2), a variant chromosome. Hum Genet. 1997;101:175–80.

    Article  CAS  PubMed  Google Scholar 

  4. Feuk L. Inversion variants in the human genome: role in disease and genome architecture. Genome Med. 2010;2(2):11.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, et al. The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. Am J Med Genet A. 2008;146A:1797–806.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Joyce EF, McKim KS. Chromosome axis defects induce a checkpoint-mediated delay and interchromosomal effect on crossing over during Drosophila meiosis. PLoS Genet. 2010;6(8):e1001059.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Anton E, Blanco J, Egozcue J, Vidal F. Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res. 2005;111:297–304.

    Article  CAS  PubMed  Google Scholar 

  8. Anton E, Vidal F, Blanco J. Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers. Syst Biol Reprod Med. 2011;57:268–78.

    Article  CAS  PubMed  Google Scholar 

  9. Gardner R, Sutherland G. Chromosome abnormalities and genetic counseling. Oxford: Oxford University Press; 1996.

  10. Lejeune J. Autosomal disorders. Pediatrics. 1963;32:326–37.

    CAS  PubMed  Google Scholar 

  11. Anton E, Vidal F, Egozcue J, Blanco J. Genetic reproductive risk in inversion carriers. Fertil Steril. 2006;85:661–6.

    Article  CAS  PubMed  Google Scholar 

  12. Caer E, Perrin A, Douet-Guilbert N, Amice V, De Braekeleer M, Morel F. Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8. Fertil Steril. 2008;89:1637–40.

    Article  PubMed  Google Scholar 

  13. Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, et al. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod Oxf Engl. 2007;22:136–41.

    Article  CAS  Google Scholar 

  14. Amiel A, Sardos-Albertini F, Fejgin MD, Sharony R, Diukman R, Bartoov B. Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin. J Hum Genet. 2001;46:245–50.

    Article  CAS  PubMed  Google Scholar 

  15. Mikhaail-Philips MM, Ko E, Chernos J, Greene C, Rademaker A, Martin RH. Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect. Am J Med Genet A. 2004;127A:139–43.

    Article  PubMed  Google Scholar 

  16. Mikhaail-Philips MM, McGillivray BC, Hamilton SJ, Ko E, Chernos J, Rademaker A, et al. Unusual segregation products in sperm from a pericentric inversion 17 heterozygote. Hum Genet. 2005;117:357–65.

    Article  CAS  PubMed  Google Scholar 

  17. Vialard F, Delanete A, Clement P, Simon-Bouy B, Aubriot FX, Selva J. Sperm chromosome analysis in two cases of paracentric inversion. Fertil Steril. 2007;87:418.e1–5.

    Google Scholar 

  18. Blanco J, Egozcue J, Vidal F. Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum Genet. 2000;106:500–5.

    Article  CAS  PubMed  Google Scholar 

  19. Ferfouri F, Clement P, Gomes DM, Minz M, Amar E, Selva J, et al. Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes? Fertil Steril. 2009;92:1497.e1–4.

    Article  Google Scholar 

  20. Alfarawati S, Fragouli E, Colls P, Wells D. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod Oxf Engl. 2011;26:1560–74.

    Article  CAS  Google Scholar 

  21. Schoolcraft WB, Treff NR, Stevens JM, Ferry K, Katz-Jaffe M, Scott RT. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based comprehensive chromosome screening in infertile patients. Fertil Steril. 2011;96:638–40.

    Article  PubMed  Google Scholar 

  22. Treff NR, Su J, Tao X, Levy B, Scott RT. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94:2017–21.

    Article  CAS  PubMed  Google Scholar 

  23. Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, et al. Aneuploidy across individual chromosomes at the embryonic level in trophectoderm biopsies: changes with patient age and chromosome structure. J Assist Reprod Genet. 2014;31:1501–9.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Schoolcraft WB, Katz-Jaffe MG. Comprehensive chromosome screening of trophectoderm with vitrification facilitates elective single-embryo transfer for infertile women with advanced maternal age. Fertil Steril. 2013;100:615–9.

    Article  PubMed  Google Scholar 

  25. Schoolcraft WB, Katz-Jaffe MG, Stevens J, Rawlins M, Munne S. Preimplantation aneuploidy testing for infertile patients of advanced maternal age: a randomized prospective trial. Fertil Steril. 2009;92:157–62.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Genetics, Colorado Center for Reproductive Medicine, Lone Tree, USA

    D. Young & D. Klepacka

  2. Department of Genetics, Colorado Center for Reproductive Medicine, Lone Tree, USA

    M. McGarvey

  3. Colorado Center for Reproductive Medicine, Lone Tree, USA

    W. B. Schoolcraft

  4. Colorado Center for Reproductive Medicine, 10290 RidgeGate Circle, Lone Tree, CO, 80124, USA

    M. G. Katz-Jaffe

Authors
  1. D. Young
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. D. Klepacka
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. McGarvey
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. W. B. Schoolcraft
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. G. Katz-Jaffe
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. G. Katz-Jaffe.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Young, D., Klepacka, D., McGarvey, M. et al. Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect. J Assist Reprod Genet 36, 509–516 (2019). https://doi.org/10.1007/s10815-018-1376-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-018-1376-1

Keywords

Search

Navigation