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Journal of Assisted Reproduction and Genetics

01-04-2024 | Preimplantation Genetic Diagnostics | Assisted Reproduction Technologies

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

Authors: Cristina Guarneri, Marco Reschini, Monica Pinna, Lucia Perego, Elena Sanzani, Edgardo Somigliana, Ugo Sorrentino, Matteo Cassina, Daniela Zuccarello, Marta Ciaffaglione

Published in: Journal of Assisted Reproduction and Genetics

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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Title: 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
Authors: Cristina Guarneri
Marco Reschini
Monica Pinna
Lucia Perego
Elena Sanzani
Edgardo Somigliana
Ugo Sorrentino
Matteo Cassina
Daniela Zuccarello
Marta Ciaffaglione
Publication date: 01-04-2024
Publisher: Springer US
Keyword: Preimplantation Genetic Diagnostics
Published in: Journal of Assisted Reproduction and Genetics
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-024-03078-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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