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. 2024 May;41(5):1173-1179.
doi: 10.1007/s10815-024-03078-w. Epub 2024 Apr 1.

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

Cristina Guarneri  1 , Marco Reschini  2 , Monica Pinna  2 , Lucia Perego  2 , Elena Sanzani  2 , Edgardo Somigliana  2 , Ugo Sorrentino  3 , Matteo Cassina  3 , Daniela Zuccarello  3 , Marta Ciaffaglione  2
Affiliations

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

Cristina Guarneri et al. J Assist Reprod Genet. 2024 May.

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.

Keywords: Assisted reproductive technology; Blastocysts biopsy; Embryo biopsy; IVF; Preimplantation genetic testing for monogenic diseases.

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Conflict of interest statement

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.

Figures

Fig. 1
Fig. 1
Clinical pregnancy rate and live birth in the two study groups
See this image and copyright information in PMC

References

    1. ESHRE PGT Consortium and SIG-Embryology Biopsy Working Group. Kokkali G, Coticchio G, Bronet F, Celebi C, Cimadomo D, Goossens V, Liss J, Nunes S, Sfontouris I, Vermeulen N, Zakharova E, De Rycke M. ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT. Hum Reprod Open. 2020;2020(3):hoaa020. doi: 10.1093/hropen/hoaa020. - DOI - PMC - PubMed
    1. Coll L, Parriego M, Boada M, Devesa M, Arroyo G, Rodríguez I, Coroleu B, Vidal F, Veiga A. Transition from blastomere to trophectoderm biopsy: comparing two preimplantation genetic testing for aneuploidies strategies. Zygote. 2018;26(3):191–198. doi: 10.1017/S0967199418000084. - DOI - PubMed
    1. Scott RT, Jr, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;97(4):870–875. doi: 10.1016/j.fertnstert.2012.01.104. - DOI - PubMed
    1. Scott RT, Jr, Upham KM, Forman EJ, Hong KH, Scott KL, Taylor D, Tao X, Treff NR. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril. 2013;100(3):697–703. doi: 10.1016/j.fertnstert.2013.04.035. - DOI - PubMed
    1. Scott RT, Jr, Upham KM, Forman EJ, Zhao T, Treff NR. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril. 2013;100(3):624–630. doi: 10.1016/j.fertnstert.2013.04.039. - DOI - PubMed

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