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The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case–control study

  • Assisted Reproduction Technologies
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Abstract

Purpose

To evaluate whether a second biopsy, following a first diagnostic failure on blastocysts tested for preimplantation genetic testing for monogenic diseases (PGT-M), allows to obtain genetic diagnosis and to what extent this procedure can influence clinical pregnancy and live birth rates compared to the PGT-M process with a successful genetic diagnosis from the first biopsy.

Methods

Embryos from women who underwent PGT-M in an infertility centre and who had been transferred after two biopsies for genetic analysis (n = 27) were matched in a 1:1 ratio accordingly to women’s age (± 1 year) and fertility status (fertile vs infertile), as well as with the study period, with embryos who were transferred after receiving a conclusive PGT result straight after the first biopsy (n = 27). The main evaluated outcome was clinical pregnancy rate following embryo transfers in which healthy embryos were transferred after only one biopsy and those in which an embryo was transferred after being re-biopsied. Live birth rate was the secondary outcome.

Results

Clinical pregnancy rate was 52% (95% CI: 34–69) following the transfer of a single-biopsy blastocyst and 30% (95% CI: 16–48) following the transfer of a re-biopsied blastocyst. The likelihood to have a healthy baby was 33% (95% CI: 19–52) following the transfer of a blastocyst biopsied once and 22% (95% CI: 11–41) following the transfer of a re-biopsied blastocyst.

Conclusions

The re-biopsy intervention seems to considerably reduce the pregnancy potential of a blastocyst. However, a greater sample size is necessary to clarify this issue definitively.

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Data availability

Data will be made available on request.

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Funding

The study was partially funded by the Italian Ministry of Health—current research IRCCS.

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Authors and Affiliations

  1. Infertility Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Manfredo Fanti 6, 20122, Milano, Italy

    Cristina Guarneri, Marco Reschini, Monica Pinna, Lucia Perego, Elena Sanzani, Edgardo Somigliana & Marta Ciaffaglione

  2. Department of Lab Medicine, Unit of Clinical Genetics and Epidemiology, University Hospital of Padova, Via Giustiniani 2, 35128, Padova, Italy

    Ugo Sorrentino, Matteo Cassina & Daniela Zuccarello

Authors
  1. Cristina Guarneri
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  2. Marco Reschini
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  3. Monica Pinna
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  4. Lucia Perego
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  5. Elena Sanzani
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  6. Edgardo Somigliana
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  7. Ugo Sorrentino
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  8. Matteo Cassina
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  9. Daniela Zuccarello
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  10. Marta Ciaffaglione
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Corresponding author

Correspondence to Cristina Guarneri.

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Competing interests

ES declares receiving honoraria for lectures at meetings from IBSA and Gedeon-Richter. He also handles private grants of research from Ferring, IBSA and Gedeon-Richter. All the other authors do not have any conflict of interest to declare.

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Guarneri, C., Reschini, M., Pinna, M. et al. The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case–control study. J Assist Reprod Genet (2024). https://doi.org/10.1007/s10815-024-03078-w

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