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

  • D. Young
  • D. Klepacka
  • M. McGarvey
  • W. B. Schoolcraft
  • M. G. Katz-Jaffe
Genetics
  • 36 Downloads

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.

Keywords

Inter-chromosomal effect Balanced inversion carriers Preimplantation genetic testing-aneuploidy Structural chromosome rearrangement 

Notes

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • D. Young
    • 1
  • D. Klepacka
    • 1
  • M. McGarvey
    • 2
  • W. B. Schoolcraft
    • 3
  • M. G. Katz-Jaffe
    • 4
  1. 1.Department of GeneticsColorado Center for Reproductive MedicineLone TreeUSA
  2. 2.Department of GeneticsColorado Center for Reproductive MedicineLone TreeUSA
  3. 3.Colorado Center for Reproductive MedicineLone TreeUSA
  4. 4.Colorado Center for Reproductive MedicineLone TreeUSA

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