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Chapter 14 - Biopsy Techniques from Polar Body to Blastocyst

Published online by Cambridge University Press:  26 April 2023

Catherine Racowsky
Affiliation:
Hôpital Foch, France
Jacques Cohen
Affiliation:
IVF 2.0, New York
Nicholas Macklon
Affiliation:
London Women's Clinic
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Summary

Chromosomal aneuploidies mainly affect blastocysts produced from advanced maternal age women (≥35yr). Nevertheless, also in younger patients the aneuploidy rate is ~30%. If one of the partners is carrier of a structural rearrangement, the risk of producing aneuploid gametes is high, independently of woman age. Moreover, ~2% of the couples are carrier of an inheritable monogenic disease. To circumvent the risk of transferring affected and/or chromosomally-abnormal embryos, pre-implantation genetic testing has been introduced in IVF. Throughout the last 30 years, three biopsy approaches have been implemented: blastomere biopsy at the cleavage stage, polar body biopsy from oocytes/zygotes, and trophectoderm biopsy from the blastocyst. The latter is the current gold standard. Here we describe the three approaches along with tips and troubleshooting inherent to trophectoderm biopsy, to correctly perform it, optimize its outcomes, and cope with peculiar situations.

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Publisher: Cambridge University Press
Print publication year: 2023

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References

Handyside, AH, Kontogianni, EH, Hardy, K, Winston, RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.CrossRefGoogle ScholarPubMed
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;100:624–30.Google Scholar
Capalbo, A, Ubaldi, FM, Cimadomo, D, Maggiulli, R, Patassini, C, Dusi, L, et al. Consistent and reproducible outcomes of blastocyst biopsy and aneuploidy screening across different biopsy practitioners: a multicentre study involving 2586 embryo biopsies. Hum Reprod. 2016;31:199208.CrossRefGoogle ScholarPubMed
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;97:870–5.CrossRefGoogle ScholarPubMed
Veiga, A, Sandalinas, M, Benkhalifa, M, Boada, M, Carrera, M, Santalo, J, et al. Laser blastocyst biopsy for preimplantation diagnosis in the human. Zygote. 1997;5:351–4.CrossRefGoogle ScholarPubMed
de Boer, KA, Catt, JW, Jansen, RP, Leigh, D, McArthur, S. Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF. Fertil Steril. 2004;82:295–8.CrossRefGoogle ScholarPubMed
McArthur, SJ, Leigh, D, Marshall, JT, de Boer, KA, Jansen, RP. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril. 2005;84:1628–36.Google Scholar
Capalbo, A, Rienzi, L, Cimadomo, D, Maggiulli, R, Elliott, T, Wright, G, et al. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum Reprod. 2014;29:1173–81.Google Scholar
Verlinsky, Y, Cieslak, J, Ivakhnenko, V, Evsikov, S, Wolf, G, White, M, et al. Preimplantation diagnosis of common aneuploidies by the first- and second-polar body FISH analysis. J Assist Reprod Genet. 1998;15:285–9.Google ScholarPubMed
Verlinsky, Y, Ginsberg, N, Lifchez, A, Valle, J, Moise, J, Strom, CM. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod. 1990;5:826–9.Google Scholar
Capalbo, A, Ubaldi, FM, Rienzi, L, Scott, R, Treff, N. Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities. Hum Reprod. 2016;32:492–8.Google Scholar
Capalbo, A, Rienzi, L. Mosaicism between trophectoderm and inner cell mass. Fertil Steril. 2017;107:10981106.CrossRefGoogle ScholarPubMed
Werner, MD, Leondires, MP, Schoolcraft, WB, Miller, BT, Copperman, AB, Robins, ED, et al. Clinically recognizable error rate after the transfer of comprehensive chromosomal screened euploid embryos is low. Fertil Steril. 2014;102:1613–18.CrossRefGoogle ScholarPubMed
Tiegs, AW, Hodes-Wertz, B, McCulloh, DH, Munné, S, Grifo, JA. Discrepant diagnosis rate of array comparative genomic hybridization in thawed euploid blastocysts. J Assist Reprod Genet. 2016;33:893–7.Google Scholar
Tiegs, AW, Tao, X, Whitehead, C, Neal, SA, Osman, EK, Kim, J, et al. Does preimplantation genetic testing for aneuploidy (PGT-A) harm embryos? No – a multicenter, prospective, blinded, non-selection study evaluating the predictive value of an aneuploid diagnosis and impact of biopsy. Fertil Steril. 2019;115:627–37.Google Scholar
ESHRE Special Interest Group of Embryology and Alpha Scientists in Reproductive Medicine. The Vienna consensus: report of an expert meeting on the development of ART laboratory performance indicators. Reprod Biomed Online. 2017;35:494510.CrossRefGoogle Scholar
Kokkali, G, Coticchio, G, Bronet, F, Celebi, C, Cimadomo, D, Goossens, V, et al. ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT. Hum Reprod Open. 2020;3:hoaa020.Google Scholar
Cimadomo, D, Capalbo, A, Levi-Setti, PE, Soscia, D, Orlando, G, Albani, E, et al. Associations of blastocyst features, trophectoderm biopsy and other laboratory practice with post-warming behavior and implantation. Hum Reprod. 2018;33:19922001.CrossRefGoogle ScholarPubMed
Cimadomo, D, Rienzi, L, Romanelli, V, Alviggi, E, Levi-Setti, PE, Albani, E, et al. Inconclusive chromosomal assessment after blastocyst biopsy: prevalence, causative factors and outcomes after re-biopsy and re-vitrification: A multicenter experience. Hum Reprod. 2018;33:1839–46.Google Scholar
Neal, SA, Franasiak, JM, Forman, EJ, Werner, MD, Morin, SJ, Tao, X, et al. High relative deoxyribonucleic acid content of trophectoderm biopsy adversely affects pregnancy outcomes. Fertil Steril. 2017;107:731–6.CrossRefGoogle ScholarPubMed
Cimadomo, D, Ubaldi, FM, Capalbo, A, Maggiulli, R, Scarica, C, Romano, S, et al. Failure mode and effects analysis of witnessing protocols for ensuring traceability during PGD/PGS cycles. Reprod Biomed Online. 2016;33:360–9.CrossRefGoogle ScholarPubMed
Chen, SU, Chao, KH, Wu, MY, Chen, CD, Ho, HN, Yang, YS. The simplified two-pipette technique is more efficient than the conventional three-pipette method for blastomere biopsy in human embryos. Fertil Steril. 1998;69:569–75.CrossRefGoogle Scholar
Magli, MC, Ferraretti, AP, Crippa, A, Lappi, M, Feliciani, E, Gianaroli, L. First meiosis errors in immature oocytes generated by stimulated cycles. Fertil Steril. 2006;86:629–35.CrossRefGoogle ScholarPubMed
Cohen, J, Malter, H, Fehilly, C, Wright, G, Elsner, C, Kort, H, et al. Implantation of embryos after partial opening of oocyte zona pellucida to facilitate sperm penetration. Lancet. 1988;2:162.Google Scholar
Germond, M, Nocera, D, Senn, A, Rink, K, Delacretaz, G, Fakan, S. Microdissection of mouse and human zona pellucida using a 1.48-microns diode laser beam: efficacy and safety of the procedure. Fertil Steril. 1995;64:604–11.CrossRefGoogle ScholarPubMed
Licciardi, F, Gonzalez, A, Tang, YX, Grifo, J, Cohen, J, Neev, Y. Laser ablation of the mouse zona pellucida for blastomere biopsy. J Assist Reprod Genet. 1995;12:462–6.CrossRefGoogle ScholarPubMed
Montag, M, van der Ven, K, Delacretaz, G, Rink, K, van der Ven, H. Laser-assisted microdissection of the zona pellucida facilitates polar body biopsy. Fertil Steril. 1998;69:539–42.CrossRefGoogle ScholarPubMed
Verpoest, W, Staessen, C, Bossuyt, PM, Goossens, V, Altarescu, G, Bonduelle, M, et al. Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial. Hum Reprod. 2018;33:1767–76.Google Scholar
Magli, MC, Montag, M, Koster, M, Muzi, L, Geraedts, J, Collins, J, et al. Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspects. Hum Reprod. 2011;26:3181–5.CrossRefGoogle ScholarPubMed
Montag, M, Koster, M, Strowitzki, T, Toth, B. Polar body biopsy. Fertil Steril. 2013;100:603–7.Google Scholar
Malter, HE, Cohen, J. Partial zona dissection of the human oocyte: a nontraumatic method using micromanipulation to assist zona pellucida penetration. Fertil Steril. 1989;51:139–48.Google Scholar
Dumoulin, JC, Bras, M, Coonen, E, Dreesen, J, Geraedts, JP, Evers, JL. Effect of Ca2+/Mg2+-free medium on the biopsy procedure for preimplantation genetic diagnosis and further development of human embryos. Hum Reprod. 1998;13:2880–3.CrossRefGoogle ScholarPubMed
Jones, AE, Wright, G, Kort, HI, Straub, RJ, Nagy, ZP. Comparison of laser-assisted hatching and acidified Tyrode’s hatching by evaluation of blastocyst development rates in sibling embryos: a prospective randomized trial. Fertil Steril. 2006;85:487–91.CrossRefGoogle ScholarPubMed
Wang, WH, Kaskar, K, Ren, Y, Gill, J, DeSplinter, T, Haddad, G, et al. Comparison of development and implantation of human embryos biopsied with two different methods: aspiration and displacement. Fertil Steril. 2009;92:536–40.CrossRefGoogle ScholarPubMed
Rubio, C, Bellver, J, Rodrigo, L, Castillon, G, Guillen, A, Vidal, C, et al. In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study. Fertil Steril. 2017;107:1122–9.Google Scholar

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