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Whether to transfer mosaic embryos: a cytogenetic view of true mosaicism by amniocentesis

  • Author Footnotes
    † These authors contributed equally to this work.
    Kun-Long Huang
    Footnotes
    † These authors contributed equally to this work.
    Affiliations
    Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Author Footnotes
    † These authors contributed equally to this work.
    Ching-Chang Tsai
    Footnotes
    † These authors contributed equally to this work.
    Affiliations
    Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Hsin-Hsin Cheng
    Affiliations
    Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Yu-Jen Huang
    Affiliations
    Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Yun-Ju Lai
    Affiliations
    Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Chou-Hui Wu
    Affiliations
    Department of Cytogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Pi-Yu Hsiao
    Affiliations
    Department of Cytogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Te-Yao Hsu
    Correspondence
    Corresponding authors.
    Affiliations
    Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Kuo-Chung Lan
    Correspondence
    Corresponding authors.
    Affiliations
    Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
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  • Author Footnotes
    † These authors contributed equally to this work.
Published:March 06, 2021DOI:https://doi.org/10.1016/j.rbmo.2021.03.003

      Abstract

      Research question

      Preimplantation genetic testing for aneuploidies has increasingly been employed for embryo selection, resulting in a recent surge in mosaic embryos. According to the cytogenetic results, which types of mosaic embryo survive early pregnancy, progress to the second trimester and finally result in a live birth?

      Design

      This study evaluated 30,587 pregnant women undergoing amniocentesis from January 2004 to March 2020 at the cytogenic centre of Kaohsiung Chang Gung Memorial Hospital. Samples from amniocentesis were cultured using the in-situ method. The types and distribution of level III chromosomal mosaicism (two or more cells with the same abnormality in two or more colonies and both culture dishes, clinically referred to as ‘true mosaicism’) were retrospectively reviewed.

      Results

      Among the 30,587 women, 78 cases (0.26%) of level III chromosomal mosaicism were identified. The types of chromosomal mosaicism were classified as sex chromosome mosaicism (SCM), autosomal chromosome mosaicism (ACM) and marker chromosome mosaicism (MCM), with SCM, ACM and MCM accounting for 58.97%, 32.05% and 8.97% of cases, respectively. The most common mosaic cell lines were monosomy X and trisomy 21. The most common mosaic cell line progressing to live birth was monosomy X.

      Conclusions

      Mosaic monosomy X and trisomy 21 are the most common cell lines of true mosaicism determined by amniocentesis. Monosomy X mosaicism is the most common cell line in live births. For women considering the transfer of these types of mosaic embryo in a circumstance where euploid embryos are unavailable, clinicians should provide careful prenatal counselling, detailed ultrasonography and amniocentesis.

      Keywords

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      Biography

      Kun-Long Huang graduated from Chung Shan Medical University, Taiwan, in 2013. He completed his residency in Obstetrics and Gynaecology in 2019, and further specialized in high-risk pregnancy. He is presently in the second year of a Fellowship at Chang Gung Memorial Hospital-Kaohsiung Medical Center, Taiwan.
      Key message
      Mosaic monosomy X and trisomy 21 are the most common cell lines of true mosaicism determined by amniocentesis. Monosomy X mosaicism is the most common cell line in live births. For women considering the transfer of such mosaic embryos, clinical physicians should provide careful prenatal counselling, detailed ultrasonography and amniocentesis.