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PGT-M for mt DNA mutation: ovarian response to stimulation, outcomes and follow-up

  • Author Footnotes
    # These authors contributed equally to these work
    Anne Mayeur
    Correspondence
    Corresponding author: Dr Anne Mayeur, Department of Reproductive Biology, Hôpital Antoine Béclère, 157 avenue de la porte trivaux, 92140, Clamart, France, Number: +331.45.37.49.79
    Footnotes
    # These authors contributed equally to these work
    Affiliations
    Service de Biologie de la Reproduction- CECOS, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay, cedex F-92140, Clamart, France

    Univ Paris Sud, Université Paris-Saclay, 94270, Le Kremlin-Bicêtre, France
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  • Author Footnotes
    # These authors contributed equally to these work
    Emmanuelle Benaloun
    Footnotes
    # These authors contributed equally to these work
    Affiliations
    Service de Biologie de la Reproduction- CECOS, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay, cedex F-92140, Clamart, France
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  • Jonas Benguigui
    Affiliations
    Service de Médecine de la reproduction et Préservation de la Fertilité, Assistance Publique Hôpitaux de Paris, Hôpital Antoine Béclère, Clamart, 92140, France
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  • Constance Duperier
    Affiliations
    Service de Médecine de la reproduction et Préservation de la Fertilité, Assistance Publique Hôpitaux de Paris, Hôpital Antoine Béclère, Clamart, 92140, France
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  • Laetitia Hesters
    Affiliations
    Service de Biologie de la Reproduction- CECOS, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay, cedex F-92140, Clamart, France
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  • Kalliopi Chatzovoulou
    Affiliations
    Université de Paris, Institut Imagine, INSERM UMR1163, Paris, France
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  • Sophie Monnot
    Affiliations
    Université de Paris, Imagine INSERM UMR1163 et Service de Médecine Génomique des Maladies rares, Groupe Hospitalier Necker-Enfants Malades, AP-HP, Paris, France
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  • Michael Grynberg
    Affiliations
    Univ Paris Sud, Université Paris-Saclay, 94270, Le Kremlin-Bicêtre, France

    Service de Médecine de la reproduction et Préservation de la Fertilité, Assistance Publique Hôpitaux de Paris, Hôpital Antoine Béclère, Clamart, 92140, France
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  • Julie Steffann
    Affiliations
    Université de Paris, Institut Imagine, INSERM UMR1163, Paris, France

    Université de Paris, Imagine INSERM UMR1163 et Service de Médecine Génomique des Maladies rares, Groupe Hospitalier Necker-Enfants Malades, AP-HP, Paris, France
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  • Nelly Frydman
    Affiliations
    Service de Biologie de la Reproduction- CECOS, Hôpital Antoine Béclère, AP-HP, Université Paris Saclay, cedex F-92140, Clamart, France

    Univ Paris Sud, Université Paris-Saclay, 94270, Le Kremlin-Bicêtre, France
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  • Charlotte Sonigo
    Affiliations
    Univ Paris Sud, Université Paris-Saclay, 94270, Le Kremlin-Bicêtre, France

    Service de Médecine de la reproduction et Préservation de la Fertilité, Assistance Publique Hôpitaux de Paris, Hôpital Antoine Béclère, Clamart, 92140, France

    Inserm U1185, Faculté de médecine Paris Sud, France
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  • Author Footnotes
    # These authors contributed equally to these work
Published:February 28, 2023DOI:https://doi.org/10.1016/j.rbmo.2023.02.010

      ABSTRACT

      Research question

      How do carriers of pathogenic mtDNA respond to controlled ovarian stimulation (COS)?

      Design

      This was a single-center; retrospective study carried out from January 2006 to July 2021 in France. We compared ovarian reserve markers and COS outcomes for PGT women patients with maternally inherited mtDNA disease (n=18) (mtDNA-PGT group) to a control-matched patients group (n=96). We also reported the PGT outcomes for the mtDNA-PGT group and the follow up of these patients in case of unsuccessfull PGT.

      Results

      For carriers of pathogenic mtDNA, parameters of ovarian response to FSH and COS outcomes were not different from those of matched COS cycles. However, the carriers of pathogenic mtDNAneeded a longer ovarian stimulation and higher dose of gonadotropins. Three patients (16.6%) obtained a live birth after the PGT process, and 8 patients (44.4%) obtained a live birth through alternative methods (oocyte donation (n=4), spontaneous pregnancy with PND (n=2), and adoption (n=2)).

      Conclusion

      We report the first study of women carrying a mtDNA variantwho have undergone a PGT-M procedure. We concluded that PGT is one of the possible options to obtain a healthy baby without observing an impairment in ovarian response to stimulation.

      Keys words

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      Biography

      Dr. Anne Mayeur is a medical Embryologist at Clamart Hospital, Paris, France. She graduated in 2013. She is particularly dedicated to PGT-M and PGT-SR activities and conducts research to improve the management of patients with genetic defects.