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When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy

  • Assisted Reproduction Technologies
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Abstract

Purpose

To describe diagnostic results following re-biopsy of blastocysts with inconclusive results on preimplantation genetic screening for aneuploidy (PGT-A) and to evaluate the reproductive potential of re-biopsied blastocysts.

Methods

This retrospective cohort study included all trophectoderm biopsies submitted for PGT-A by a large in vitro fertilization center to a single genetics laboratory from June 2016 to October 2018. PGT-A was performed using next-generation sequencing (NGS). No-result blastocysts that underwent re-biopsy were subsequently classified as euploid, aneuploid, mosaic/segmental, or no-result. Ongoing pregnancy and clinical loss rates were assessed following transfer of re-biopsied blastocysts. Logistic regressions were conducted to account for age and blastocyst morphology.

Results

Of the trophectoderm biopsies submitted for PGT-A, 635/25,199 (2.5%) were categorized as no-result. Those that underwent re-biopsy (n = 250) had a 95.2% diagnostic rate with 140 (56.0%) receiving euploid diagnoses. Thirty-six re-biopsied blastocysts deemed euploid were subsequently transferred, resulting in 18 (50.0%) ongoing pregnancies and 5 (13.9%) clinical losses. After adjusting for age and blastocyst morphology, there remained a lower ongoing pregnancy rate and a trend towards higher clinical loss rate following transfer of a re-biopsied blastocyst. When compared to blastocysts that underwent the same number of vitrification-warming cycles but only one biopsy, there were no differences in outcomes.

Conclusions

Failure to obtain an analytical result does not change the probability that a given blastocyst is euploid. Pregnancy outcomes following transfer of re-biopsied blastocysts are favorable, but further data must be accrued for an adequately powered comparison with outcomes after transfer of blastocysts biopsied once.

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Authors and Affiliations

  1. IVI/RMA New Jersey, 140 Allen Rd, Basking Ridge, NJ, 07920, USA

    Shelby A. Neal, S. J. Morin, T. A. Molinaro & R. T. Scott Jr

  2. Foundation for Embryonic Competence, 140 Allen Rd, Basking Ridge, NJ, 07920, USA

    Shelby A. Neal, L. Sun & C. Jalas

  3. Sidney Kimmel College of Medicine, Thomas Jefferson University, 1025 Walnut St., #100, Philadelphia, PA, 19107, USA

    S. J. Morin

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  1. Shelby A. Neal
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  2. L. Sun
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  3. C. Jalas
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  4. S. J. Morin
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  5. T. A. Molinaro
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  6. R. T. Scott Jr
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Correspondence to Shelby A. Neal.

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Neal, S.A., Sun, L., Jalas, C. et al. When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy. J Assist Reprod Genet 36, 2103–2109 (2019). https://doi.org/10.1007/s10815-019-01550-6

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  • DOI: https://doi.org/10.1007/s10815-019-01550-6

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