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Research Article| Volume 282, P7-11, March 2023

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Chromosomal concordance between babies produced by the preimplantation genetic testing for aneuploidies and trophectoderm biopsies: A prospective observational study

  • Author Footnotes
    1 These authors have contributed equally to this work and share first authorship.
    Zhongyuan Yao
    Footnotes
    1 These authors have contributed equally to this work and share first authorship.
    Affiliations
    Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410000, China

    Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China

    Clinical Research Center for Women's Reproductive Health in Hunan Province, Hunan 410087, China
    Search for articles by this author
  • Author Footnotes
    1 These authors have contributed equally to this work and share first authorship.
    Xiaoxia Wang
    Footnotes
    1 These authors have contributed equally to this work and share first authorship.
    Affiliations
    Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China
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  • Jun Zeng
    Affiliations
    Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China
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  • Jing Zhao
    Affiliations
    Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China

    Clinical Research Center for Women's Reproductive Health in Hunan Province, Hunan 410087, China
    Search for articles by this author
  • Qiuping Xia
    Affiliations
    Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410000, China

    Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China
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  • Lei Zhang
    Affiliations
    Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China
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  • Lingqian Wu
    Correspondence
    Corresponding authors at: Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China.
    Affiliations
    Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410000, China
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  • Yanping Li
    Correspondence
    Corresponding authors at: Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China.
    Affiliations
    Department of Reproductive Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China

    Clinical Research Center for Women's Reproductive Health in Hunan Province, Hunan 410087, China
    Search for articles by this author
  • Author Footnotes
    1 These authors have contributed equally to this work and share first authorship.
Published:December 26, 2022DOI:https://doi.org/10.1016/j.ejogrb.2022.12.024
Chromosomal concordance between babies produced by the preimplantation genetic testing for aneuploidies and trophectoderm biopsies: A prospective observational study
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      Abstract

      Objectives

      Contributed to the development of next-generation sequencing (NGS) technology, more and more chromosomally mosaic and aneuploid embryos are discovered during the preimplantation genetic testing for aneuploidy (PGT-A) cycles. Because mosaicism and aneuploidy are routine phenomena throughout human pre- and post-implantation development. The benefit of implanting such mosaicism or aneuploidies detected by precise NGS remains controversial. This study aimed to investigate chromosomal concordance between babies produced by PGT-A and trophectoderm (TE) biopsies, and whether precise NGS resolution would reduce the development of an abnormal embryo in PGT cycles.

      Study Design

      Peripheral blood samples from 17 PGT-A babies were collected to compare with TE biopsy results at different NGS resolutions.

      Results

      16 euploid embryos diagnosed by 10 Mb resolution developed into 16 healthy babies with normal copy number variations (CNVs). One mosaic embryo diagnosed by both 10 Mb and 4 Mb resolution also produced a euploid baby finally. Among them, four euploid embryos diagnosed by 10 Mb NGS, showed segmental aneuploidy at 4 Mb NGS resolution. Four of them developed into euploid babies with normal CNVs finally.

      Conclusions

      NGS at 10 Mb resolution is accurate enough to diagnose viable embryos. A more precise NGS resolution (e.g., 4 Mb resolution) results in discard of some potentially viable embryos. It is suggested to analyze the TE biopsy at both 10 Mb and 4 Mb resolutions to identify embryos with adverse chromosomal aberrations, but using 10 Mb resolution for guide transfer to increase a development chance of an embryo.
      Trial registration: www.ClinicalTrials.gov, identifier ChiCTR2100042522.

      Abbreviations:

      PGT-A (preimplantation genetic testing for aneuploidies), ICM (inner cell mass), CNVs (copy number variations), FISH (fluorescence in situ hybridization), aCGH (array comparative genomic hybridization), SNP (single nucleotide polymorphism), NGS (next-generation sequencing), ICSI (intracytoplasmic sperm injection), FET (frozen embryo transfer), HRT (hormone replacement therapy), NC (natural cycle), TE (trophectoderm), PGT-SR (preimplantation genetic testing for chromosomal structural rearrangements), CVS (chorionic villus sampling)

      Keywords

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      Article info

      Publication history

      Published online: December 26, 2022
      Accepted: December 24, 2022
      Received in revised form: May 14, 2022
      Received: February 10, 2022

      Identification

      DOI: https://doi.org/10.1016/j.ejogrb.2022.12.024

      Copyright

      © 2023 Elsevier B.V. All rights reserved.

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