Preimplantation genetic diagnosis and the biopsy technique: Important considerations

Abstract

Preimplantation genetic diagnosis allows to test the genetic status of embryos prior to implantation. In order to obtain genetic material, on which carry out a genetic diagnosis, a procedure named embryo biopsy is required. In the last two decades, embryo biopsy at the cleavage stage has been the mostly performed procedure. However, recently, alternative methods allowing the retrieval of a larger number of cells (blastocyst stage biopsy), or representing a valid alternative to overcome ethical issues (polar body biopsy) have obtained increasing consensus. This article reviews different methods of embryo biopsy and points out their positive and negative aspects.

Share and Cite:

Greco, E. , Fabozzi, G. , Ruberti, A. , Zavaglia, D. and Giulia Minasi, M. (2013) Preimplantation genetic diagnosis and the biopsy technique: Important considerations. Advances in Reproductive Sciences, 1, 7-14. doi: 10.4236/arsci.2013.12002.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Harper, J.C. and Sengupta, S.B. (2012) Preimplantation genetic diagnosis: State of the art 2011. Human Genetics, 131, 175-186. doi:10.1007/s00439-011-1056-z
[2] Basille, C., Frydman, R., El Aly, A., Hesters, L., Fanchin, R., Tachdjian, G., Steffann, J., LeLorc’h, M. and Achour-Frydman, N. (2009) Preimplantation genetic diagnosis: state of the art. The European Journal of Obstetrics & Gynecology and Reproductive Biology, 145, 9-13. doi:10.1016/j.ejogrb.2009.04.004
[3] Whittaker, A.M. (2011) Reproduction opportunists in the new global sex trade: PGD and non-medical sex selection. Reproductive BioMedicine Online, 23, 609-617. doi:10.1016/j.rbmo.2011.06.017
[4] ESHRE PGD Consortium Steering Committee. (2002) ESHRE Preimplantation Genetic Diagnosis Consortium: Data collection III (May 2001). Human Reproduction, 17, 233-246. doi:10.1093/humrep/17.1.233
[5] Noble, R., Bahadur, G., Iqbal, M. and Sanyal, A. (2008) Pandora’s box: Ethics of PGD for inherited risk of late-onset disorders. Reproductive Bio-Medicine Online, 17, 55-60. doi:10.1016/S1472-6483(10)60332-X
[6] Asscher, E. and Koops, B.J. (2010) The right not to know and preimplantation genetic diagnosis for Huntington’s disease. Journal of Medical Ethics, 36, 30-33. doi:10.1136/jme.2009.031047
[7] Bellavia, M., Von Der Weid, N., Peddes, C., Jacquemont, S., Liebaers, I., Hohlfeld, P., Wunder-Galié, D. and De Ziegler, D. (2010) Preimplantation genetic diagnosis (PGD) for HLA typing: Bases for setting up an open international collaboration when PGD is not available. Fertility and Sterility, 94, 1129-1131. doi:10.1016/j.fertnstert.2009.11.007
[8] Pennings, G. and De Wert, G. (2003) Evolving ethics in medically assisted reproduction. Human Reproduction Update, 9, 397-404. doi:10.1093/humupd/dmg031
[9] Ly, K.D., Agarwal, A. and Nagy, Z.P. (2011) Preimplantation genetic screening: Does it help or hinder IVF treatment and what is the role of the embryo? Journal of Assisted Reproduction and Genetics, 28, 833-849. doi:10.1007/s10815-011-9608-7
[10] Mastenbroek, S., Twisk, M., Van der Veen, F. and Repping, S. (2011) Preimplantation genetic screening: A systematic review and meta-analysis of RCTs. Human Reproduction Update, 17, 454-466. doi:10.1093/humupd/dmr003
[11] Debrock, S., Melotte, C., Spiessens, C., Peeraer, K., Vanneste, E., Meeuwis, L., Meuleman, C., Frijns, J.P., Vermeesch, J.R. and D’Hooghe, T.M. (2010) Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: A prospective randomized trial. Fertility and Sterility, 93, 364-373. doi:10.1016/j.fertnstert.2008.10.072
[12] Hardarson, T., Han-son, C., Lundin, K., Hillensj?, T., Nilsson, L., Stevic, J., Reismer, E., Borg, K., Wikland, M. and Bergh, C. (2008) Preim-plantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: A randomized controlled trial. Human Reproduction, 23, 2806-2812. doi:10.1093/humrep/den217
[13] Staessen, C., Platteau, P., Van Assche, E., Michiels, A., Tournaye, H., Camus, M., Devroey, P., Liebaers, I. and Van Steirteghem, A. (2004) Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: A prospective randomized controlled trial. Human Reproduction, 19, 2849-2858. doi:10.1093/humrep/deh536
[14] Harper, J.C. (2009) Introduction to preimplantation genetic diagnosis. In: Harper, J.C., Ed., Preimplantation Genetic Diagnosis, Cambridge University Press, Cambridge, 1-47. doi:10.1017/CBO9780511581571.002
[15] Sermon, K. (2002) Current concepts in preimplantation genetic diagnosis (PGD): A molecular biologist’s view. Human Reproduction Update, 8, 11-20. doi:10.1093/humupd/8.1.11
[16] Sermon, K. (2009) Preimplantation genetic diagnosis for monogenic disorders: Multiple PCR. In: Harper, J.C., Ed., Preimplantation Genetic Diagnosis, Cambridge University Press, Cambridge, 237-246. doi:10.1017/CBO9780511581571.016
[17] Munnè, S. (2009) Preimplantation genetic diagnosis for infertility (preimplantetion genetic screening). In: Harper, J.C., Ed., Preimplantation Genetic Diagnosis, Cambridge University Press, Cambridge, 203-229.
[18] Joris, H., De Vos, A., Janssens, R., Devroey, P., Liebaers, I. and Van Steirteghem, A. (2003) Comparison of the results of human embryo biopsy and outcome of PGD after zona drilling using acid Tyrode medium or a laser. Human Reproduction, 18, 1896-1902. doi:10.1093/humrep/deg355
[19] Chatzimeletiou, K., Morrison, E.E., Panagiotidis, Y., Prapas, N., Prapas, Y., Rutherford, A.J., Grudzinskas, G. and Handyside, A.H. (2005) Comparison of effects of zona drilling by non-contact infrared laser or acid Tyrode’s on the development of human biopsied embryos as revealed by blastomere viability, cytoskeletal analysis and molecular cytogenetics. Reproductive BioMedicine Online, 11, 697-710. doi:10.1016/S1472-6483(10)61688-4
[20] Jones, A.E., Wright, G., Kort, H.I., Straub, R.J. and Nagy, Z.P. (2006) Comparison of laser-assisted hatching and acidified Tyrode’s hatching by evaluation of blastocyst development rates in sibling embryos: A prospective randomized trial. Fertility and Sterility, 85, 487-491. doi:10.1016/j.fertnstert.2005.07.1314
[21] Verlinsky, Y., Ginsberg, N., Lifchez, A., Valle, J., Moise, J. and Strom, C.M. (1990) Analysis of the first polar body: Preconception genetic diagnosis. Human Reproduction, 5, 826-829.
[22] Munné, S., Dailey, T., Sultan, K.M., Grifo, J. and Cohen, J. (1995) The use of first polar bodies for preimplantation diagnosis of aneuploidy. Human Reproduction, 10, 1014- 1020.
[23] Verlinsky, Y. and Kuliev, A. (1996) Preimplantation diagnosis of common aneuploidies in infertile couples of advanced maternal age. Human Reproduction, 11, 2076- 2077. doi:10.1093/oxfordjournals.humrep.a019050
[24] Verlinsky, Y., Cieslak, J., Ivakhnenko, V., Evsikov, S., Wolf, G., White, M., Lifchez, A., Kaplan, B., Moise, J., Valle, J., Ginsberg, N., Strom, C. and Kuliev, A. (1998) Preimplantation diagnosis of common aneuploidies by the first- and second-polar body FISH analysis. Journal of Assisted Reproduction and Genetics, 15, 285-289. doi:10.1023/A:1022592427128
[25] Verlinsky, Y., Rechitsky, S., Cieslak, J., Ivakhnenko, V., Wolf, G., Lifchez, A., Kaplan, B., Moise, J., Walle, J., White, M., Ginsberg, N., Strom, C. and Kuliev, A. (1997) Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body. Biochemistry and Molecular Medicine, 62, 182-187. doi:10.1006/bmme.1997.2635
[26] Verlinsky, Y., Rechitsky, S., Schoolcraft, W., Strom, C. and Kuliev, A. (2001) Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA, 285, 3130-3133.
[27] Verlinsky, Y., Rechitsky, S., Verlinsky, O., Kenigsberg, D., Moshella, J., Ivakhnenko, V., Masciangelo, C., Strom, C. and Kuliev, A. (2002) Polar body-based preimplantation diagnosis for X-linked disorders. Reproductive BioMedicine Online, 4, 38-42. doi:10.1016/S1472-6483(10)61913-X
[28] Verlinsky, Y., Rechitsky, S., Evsikov, S., White, M., Cieslak, J., Lifchez, A., Valle, J., Moise, J. and Strom, C.M. (1992) Preconception and preimplantation diagnosis for cystic fibrosis. Prenatal Diagnosis, 12, 103-110. doi:10.1002/pd.1970120205
[29] Montag, M., Van der Ven, K. and Van der Ven, H. (2009) Polar body biopsy. In: Harper, J.C., Ed., Preimplantation Genetic Diagnosis, Cambridge University Press, Cambridge, 166-174. doi:10.1017/CBO9780511581571.010
[30] Strom, C.M., Ginsberg, N., Rechitsky, S., Cieslak, J., Ivakhenko, V., Wolf, G., Lifchez, A., Moise, J., Valle, J., Kaplan, B., White, M., Barton, J., Kuliev, A. and Verlinsky, Y. (1998) Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis. American Journal of Obstetrics & Gynecology, 178, 1298-1306. doi:10.1016/S0002-9378(98)70336-9
[31] Hardy, K., Martin, K.L., Leese, H.J., Winston, R.M. and Handyside, A.H. (1990) Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Human Reproduction, 5, 708-714.
[32] Dumoulin, J.C., Bras, M., Coonen, E., Dreesen, J., Geraedts, J.P. and Evers, J.L. (1998) Effect of Ca2+/Mg2+-free medium on the biopsy procedure for preimplantation genetic diagnosis and further development of human embryos. Human Reproduction, 13, 2880-2883. doi:10.1093/humrep/13.10.2880
[33] Muggleton-Harris, A.L., Glazier, A.M., Pickering, S. and Wall, M. (1995) Genetic diagnosis using polymerase chain reaction and fluorescent in-situ hybridization analysis of biopsied cells from both the cleavage and blastocyst stages of individual cultured human preim- plantation embryos. Human Reproduction, 10, 183-92. doi:10.1093/humrep/10.1.183
[34] Roudebush, W.E., Kim, J.G., Minhas, B.S. and Dodson, M.G. (1990) Survival and cell acquisition rates after preimplantation embryo biopsy: Use of two mechanical techniques and two mouse strains. American Journal of Obstetrics & Gynecology, 162, 1084-1090. doi:10.1016/0002-9378(90)91321-3
[35] Magli, M.C., Gianaroli, L., Fortini, D., Ferraretti, A.P. and Munné, S. (1999) Impact of blastomere biopsy and cryopreservation techniques on human embryo viability. Human Reproduction, 14, 770-773. doi:10.1093/humrep/14.3.770
[36] Keskintepe, L., Sher, G., Machnicka, A., Tortoriello, D., Bayrak, A., Fisch, J. and Agca, Y. (2009) Vitrification of human embryos subjected to blastomere biopsy for preimplantation genetic screening produces higher survival and pregnancy rates than slow freezing. Journal of Assisted Reproduction and Genetics, 26, 629-635. doi:10.1007/s10815-009-9369-8
[37] Harper, J.C., Coonen, E., Handyside, A.H., Winston, R.M., Hopman, A.H. and Delhanty, J.D. (1995) Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenatal Diagnosis, 15, 41-49. doi:10.1002/pd.1970150109
[38] Li, M., DeUgarte, C.M., Surrey, M., Danzer, H., DeCherney, A. and Hill, D.L. (2005) Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3. Fertility and Sterility, 84, 1395-1400. doi:10.1016/j.fertnstert.2005.04.068
[39] Barbash-Hazan, S., Frumkin, T., Malcov, M., Yaron, Y., Cohen, T., Azem, F., Amit, A. and Ben-Yosef, D. (2009) Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertility and Sterility, 92, 890-896. doi:10.1016/j.fertnstert.2008.07.1761
[40] Munné, S., Velilla, E., Colls, P., Garcia Bermudez, M., Vemuri, M.C., Steuerwald, N., Garrisi, J. and Cohen, J. (2005) Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertility and Sterility, 84, 1328-1334. doi:10.1016/j.fertnstert.2005.06.025
[41] Cohen, J., Wells, D. and Munné, S. (2007) Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates. Fertility and Sterility, 87, 496-503. doi:10.1016/j.fertnstert.2006.07.1516
[42] Goossens, V., De Rycke, M., De Vos, A., Staessen, C., Michiels, A., Verpoest, W., Van Steirteghem, A., Bertrand, C., Liebaers, I., Devroey, P. and Sermon, K. (2008) Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Human Reproduction, 23, 481-492. doi:10.1093/humrep/dem327
[43] Harton, G.L., De Rycke, M., Fiorentino, F., Moutou, C., SenGupta, S., Traeger-Synodinos, J. and Harper, J.C. (2011) ESHRE PGD consortium best practice guidelines for amplification-based PGD. Human Reproduction, 26, 33-40. doi:10.1093/humrep/deq231
[44] Van Royen, E., Mangelschots, K., Vercruyssen, M., De Neubourg, D., Valkenburg, M., Ryckaert, G. and Gerris, J. (2003) Multinucleation in cleavage stage embryos. Human Reproduction, 18, 1062-1069. doi:10.1093/humrep/deg201
[45] Hardy, K., Winston, R.M. and Handyside, A.H. (1993) Binucleate blastomeres in preimplantation human embryos in vitro: Failure of cytokinesis during early cleavage. Journal of Reproduction and Fertility, 98, 549-558. doi:10.1530/jrf.0.0980549
[46] McArthur, S.J., Leigh, D., Marshall, J.T., de Boer, K.A. and Jansen, R.P. (2005) Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertility and Sterility, 84, 1628- 1636. doi:10.1016/j.fertnstert.2005.05.063
[47] Kokkali, G., Vrettou, C., Traeger-Synodinos, J., Jones, G.M., Cram, D.S., Stavrou, D., Trounson, A.O., Kanavakis, E. and Pantos, K. (2005) Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major. Human Reproduction, 20, 1855-1859. doi:10.1093/humrep/deh893
[48] Vajta, G. and Kuwayama, M. (2006) Improving cryopreservation systems. Theriogenology, 65, 236-244. doi:10.1016/j.theriogenology.2005.09.026
[49] Escribá, M.J., Zulategui, J.F., Galán, A., Mercader, A., Remohí, J. and de los Santos, M.J. (2008) Vitrification of preimplantation genetically diagnosed human blastocysts and its contribution to the cumulative ongoing pregnancy rate per cycle by using a closed device. Fertility and Sterility, 89, 840-846. doi:10.1016/j.fertnstert.2007.04.035
[50] Evsikov, S. and Verlinsky, Y. (1998) Mosaicism in the inner cell mass of human blastocysts. Human Reproduction, 13, 3151-3155. doi:10.1093/humrep/13.11.3151
[51] Fragouli, E., Alfarawati, S., Daphnis, D.D., Goodall N.N., Mania A., Griffiths T., Gordon A. and Wells D. (2011) Cytogenetic analysis of human blastocysts with the use of FISH, CGH and a CGH: Scientific data and technical evaluation. Human Reproduction, 26, 480-490. doi:10.1093/humrep/deq344
[52] Sandalinas, M., Sadowy, S., Alikani, M., Calderon, G., Cohen, J. and Munné, S. (2001) Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Human Reproduction, 16, 1954-1958. doi:10.1093/humrep/16.9.1954
[53] Clouston, H.J., Herbert, M., Fenwick, J., Murdoch, A.P. and Wolstenholme, J. (2002) Cytogenetic analysis of human blastocysts. Prenatal Diagnosis, 22, 1143-1152. doi:10.1002/pd.502
[54] Harton, G.L., Harper, J.C., Coonen, E., Pehlivan, T., Vesela, K. and Wilton, L. (2011) ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Human Reproduction, 26, 25-32. doi:10.1093/humrep/deq230

Copyright © 2021 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.