When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive repo
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ASSISTED REPRODUCTION TECHNOLOGIES
When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy Shelby A. Neal 1,2
&
L. Sun 2 & C. Jalas 2 & S. J. Morin 1,3 & T. A. Molinaro 1 & R. T. Scott Jr 1
Received: 21 March 2019 / Accepted: 26 July 2019 # Springer Science+Business Media, LLC, part of Springer Nature 2019
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. Keywords Re-biopsy . Blastocyst . Trophectoderm biopsy . Preimplantation genetic testing for aneuploidy . Next-generation sequencing . Inconclusive results
Introduction Preimplantation genetic testing for aneuploidy (PGT-A) is a useful adjunct to IVF treatment but occasionally fails to yield a diagnostic result. The prevalence of inconclusive diagnoses
* Shelby A. Neal [email protected] 1
IVI/RMA New Jersey, 140 Allen Rd, Basking Ridge, NJ 07920, USA
2
Foundation for Embryonic Competence, 140 Allen Rd, Basking Ridge, NJ 07920, USA
3
Sidney Kimmel College of Medicine, Thomas Jefferson University, 1025 Walnut St., #100, Philadelphia, PA 19107, USA
reported in the literature ranges from 0.86 to 3.8% [1–4]. Factors known or hypothesized to cont
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