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Evidence-based clinical prioritization of embryos with mosaic results: a systematic review and meta-analysis

  • Genetics
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Abstract

Purpose

The purpose of this review and meta-analysis is to standardize the practice of mosaic embryo transfer, based on the current available evidence.

Methods

This is a systematic review and meta-analysis. Relevant studies published were comprehensively selected using PubMed, Medline, Embase, and CENTRAL until 5 March 2021. Prospective and retrospective studies reporting the genetic analysis and clinical outcomes of mosaic embryo transfer were included. Risk of bias assessment was based on the Newcastle–Ottawa scale for the non-randomized studies. The primary and secondary outcomes were combined ongoing pregnancy and live birth rate and miscarriage rate, respectively.

Results

There were no differences between low and high mosaic embryos when a cut-off of 40% was used in terms of OP/LBR and SAB. However, low mosaics with a cut-off of 50% compared to high mosaics showed a significantly higher OP/LBR in the NGS but not in the a-CGH group, and a significantly lower risk of SAB. No differences were noted between mosaic monosomies versus trisomies and single versus double mosaics for both OP/LBR and SAB. Finally, segmental mosaics showed a higher OP/LBR and a lower SAB compared to whole chromosomes, and single and double mosaics had a higher OP/LBR compared to complex mosaics.

Conclusions

A cut-off of 50% in defining low versus high mosaic embryos is preferable to a threshold of 40% when using NGS platform. No priority was established for mosaic trisomies over monosomies. Single and double mosaics must be preferred over complex mosaics and segmental mosaics must be preferred over whole chromosome mosaics. These results should be interpreted in the context of specific chromosomes involved in the mosaicism.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Faculty of Medicine, University of Montreal, Montreal, QC, Canada

    Ali Mourad, Roland Antaki, François Bissonnette & Wael Jamal

  2. OVO Fertility Center, 8000 Decarie Blvd, Montreal, QC, H4P 2S4, Canada

    Roland Antaki, François Bissonnette & Wael Jamal

  3. Department of Research, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon

    Obey Al Baini

  4. Burjeel Hospital, Abu Dhabi, United Arab Emirates

    Boutros Saadeh

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  1. Ali Mourad
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Contributions

Dr. Ali Mourad and Dr. Wael Jamal had the idea for the article. Dr. Ali Mourad and Dr. Obey Al Baini performed the literature search and data analysis. Dr. Ali Mourad, Dr. Roland Antaki, Dr. François Bissonnette, Mr. Boutros Saadeh, and Dr. Wael Jamal drafted and/or critically revised the work.

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Correspondence to Wael Jamal.

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Ali Mourad and Wael Jamal are co-first authors.

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Mourad, A., Antaki, R., Bissonnette, F. et al. Evidence-based clinical prioritization of embryos with mosaic results: a systematic review and meta-analysis. J Assist Reprod Genet 38, 2849–2860 (2021). https://doi.org/10.1007/s10815-021-02279-x

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