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Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates

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

Abstract

Purpose

To compare single nucleotide polymorphism (SNP) and comparative genomic hybridization (aCGH) microarray platforms to evaluate embryos for parental translocation imbalances and aneuploidy.

Methods

A retrospective review of preimplantation genetic diagnosis and screening (PGD/PGS) results of 498 embryos from 63 couples undergoing 75 in vitro fertilization cycles due to parental carriers of a reciprocal translocation.

Results

There was no significant difference between SNP and aCGH microarrays when comparing the prevalence of embryos that were euploid with no translocation imbalance, euploidy with a parental translocation imbalance or aneuploid with or without the parental chromosome imbalance. The clinical pregnancy rates were also equivalent for SNP (60 %) versus aCGH (65 %) microarrays. Of 498 diagnosed embryos, 45 % (226/498) were chromosomally normal without translocation errors or aneuploidy, 22 % (112/498) were euploid but had a parentally derived unbalanced chromosomal segregant, 8 % (42/498) harbored both a translocation imbalance and aneuploidy and 24 % (118/498) of embryos were genetically balanced for the parental reciprocal translocation but were aneuploid for other chromosomes. The overall clinical pregnancy rate per IVF cycle following SNP or aCGH microarray analysis was 61 % and was higher if the biopsy was done on blastocysts (65 %) versus cleavage stage embryos (59 %), although not statistically significant.

Conclusions

SNP or aCGH microarray technologies demonstrate equivalent clinical findings that maximize the pregnancy potential in patients with known parental reciprocal chromosomal translocations.

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Acknowledgements

The authors gratefully acknowledge the assistance of the staff at the Center for Preimplantation Genetics, LapCorp and the Division of Reproductive Endocrinology and Infertility. The authors thank the following individuals for their help in reviewing this manuscript: Barbara Boyd and Howard Zacur.

Conflict of interest

None of the listed authors have a financial, commercial or corporate conflict of interest.

Author information

Authors and Affiliations

  1. Department of Gynecology and Obstetrics, Division of Reproductive Endocrinology and Infertility, Johns Hopkins Medical Institutions, Phipps 264, 600 N. Wolfe Street, 21287, Baltimore, MD, USA

    Kyle J. Tobler

  2. Division of Reproductive Endocrinology and Infertility, Vanderbilt University School of Medicine, Fertility Associates of Memphis, 80 Humpreys Center, Suite 307, TN 38120-2363, Memphis, USA

    Paul R. Brezina

  3. Center for Preimplantation Genetics, LabCorp, 1500 Shady Grove Rd. #200, 20850, Rockville, MD, USA

    Andrew T. Benner

  4. Center for Preimplantation Genetics, LabCorp, 1500 Shady Grove Rd. #200, 20850, Rockville, MD, USA

    Luke Du

  5. Center for Preimplantation Genetics, LabCorp, 1500 Shady Grove Rd. #200, 20850, Rockville, MD, USA

    Xin Xu

  6. Department of Gynecology and Obstetrics, Johns Hopkins Medical Institutions and Center for Preimplantation Genetics, LabCorp, 1500 Shady Grove Rd. #200, 20850, Rockville, MD, USA

    William G. Kearns

Authors
  1. Kyle J. Tobler
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  2. Paul R. Brezina
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  3. Andrew T. Benner
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  4. Luke Du
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  5. Xin Xu
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  6. William G. Kearns
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Corresponding author

Correspondence to Paul R. Brezina.

Additional information

Capsule Both single nucleotide polymorphism and comparative genomic hybridization microarrays demonstrate an equivalent ability to identify unbalanced parental translocations and the ploidy status within embryos undergoing preimplantation genetic diagnosis/screening and result in equivalent pregnancy outcomes.

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Tobler, K.J., Brezina, P.R., Benner, A.T. et al. Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates. J Assist Reprod Genet 31, 843–850 (2014). https://doi.org/10.1007/s10815-014-0230-3

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  • DOI: https://doi.org/10.1007/s10815-014-0230-3

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