Journal of Assisted Reproduction and Genetics

, Volume 36, Issue 1, pp 159–164 | Cite as

The effect of repeated biopsy on pre-implantation genetic testing for monogenic diseases (PGT-M) treatment outcome

  • Shira PrinerEmail author
  • Gheona Altarescu
  • Oshrat Schonberger
  • Hananel Holzer
  • Esther Rubinstein
  • Nava Dekel
  • Aharon Peretz
  • Talia Eldar-Geva



To study the outcome of repeated biopsy for pre-implantation genetic testing in case of failed genetic diagnosis in the first biopsy.


The study group included 81 cycles where embryos underwent re-biopsy because there were no transferable embryos after the first biopsy: in 55 cycles, the first procedure was polar body biopsy (PBs) and the second cleavage-stage (BB); in 26 cycles, the first was BB and the second trophectoderm (BLAST) biopsy. The control group included 77 cycles where embryos underwent successful genetic diagnosis following the first biopsy, matched by maternal age, egg number, genetic inheritance type, and embryonic stage at the first biopsy. We measured genetic diagnosis rate, clinical pregnancy rates (PRs), live-birth rates (LBRs), gestational age, and birth weight.


For repeated biopsy, genetic diagnosis was received in 67/81 cycles (82.7%); at a higher rate in PB + BB than in BB + BLAST (49/55, 89.1% and 18/26, 69.2% respectively, p = 0.055). Transferable embryos were found in 47 and 68 cycles in the study and the control groups. PRs/ET were 20/47 (42.6%) and 36/68 (52.9%) (p = 0.27), 16/36 (44.4%) following PB + BB, and 4/11 (36.4%) following BB + BLAST (p = 0.74). LBRs/ET were 13/47 (27.7%) in study group, and 28/68 (41.2%) in the controls (p = 0.14), 10/36 (27.8%) following PB + BB group, and 3/11 (27.3%) following BB + BLAST (p > 0.99). Gestational age and birth weight were similar in all groups.


Re-biopsy of embryos when no genetic diagnosis could be reached following the first biopsy, achieved high rates of genetic diagnosis, pregnancies, and live births.


PGT-M Repeated embryo biopsy Polar body biopsy Cleavage-stage biopsy Blastocyst biopsy 



We would like to thank Tali Bdolah-Abram, MS, for her skillful help with statistical analysis.

Author’s roles

The study was done in partial fulfillment of the requirements of SP for a medical degree of the School of Medicine in Jerusalem, under the guidance of TEG and GA who conceived the research concept. SP contributed to the data collection and interpretation as well of writing the manuscript. OS, ER, ND, and AP contributed to the acquisition and analysis of the data. HH contributed to the interpretation of the data. All authors approved the final version before publication.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet. 2004;363:1633–41.CrossRefGoogle Scholar
  2. 2.
    Harper JC, Sengupta SB. Preimplantation genetic diagnosis: state of the art 2011. Hum Genet. 2012;131:175–86.CrossRefGoogle Scholar
  3. 3.
    Traeger-Synodinos J. Pre-implantation genetic diagnosis. Best Pract Res Clin Obstet Gynaecol. 2017;39:74–88.CrossRefGoogle Scholar
  4. 4.
    Dahdouh EM, Balayla J, Audibert F, Wilson RD, Brock JA, Campagnolo C, et al. Technical update: preimplantation genetic diagnosis and screening. J Obstet Gynaecol Can. 2015;37:451–63.CrossRefGoogle Scholar
  5. 5.
    De Rycke M, Belva F, Goossens V, Moutou C, SenGupta SB, Traeger-Synodinos J, et al. ESHRE PGD consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011. Hum Reprod. 2015;30:1763–89.CrossRefGoogle Scholar
  6. 6.
    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;35:494–510.Google Scholar
  7. 7.
    Greco E, Biricik A, Cotarelo RP, Iammarone E, Rubino P, Tesarik J, et al. Successful implantation and live birth of a healthy boy after triple biopsy and double vitrification of oocyte-embryo-blastocyst. Springerplus. 2015;4:22.CrossRefGoogle Scholar
  8. 8.
    Zhang S, Tan K, Gong F, Gu Y, Tan Y, Lu C, et al. Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening. Fertil Steril. 2014;102:1641–5.CrossRefGoogle Scholar
  9. 9.
    Wininger JD, Taylor TH, Orris JJ, Glassner M, Anderson SH. Pregnancy after rebiopsy and vitrification of blastocysts following allele dropout after day 3 biopsy. Fertil Steril. 2011;95:1122.e1–2.CrossRefGoogle Scholar
  10. 10.
    Bradley CK, Livingstone M, Traversa MV, McArthur SJ. Impact of multiple blastocyst biopsy and vitrification-warming procedures on pregnancy outcomes. Fertil Steril. 2017;108:999–1006.CrossRefGoogle Scholar
  11. 11.
    Wurfel W, Suttner R, Shakeshaft D, Mayer V, Schoen U, Sendelbach K, et al. Pregnancy and birth after a two-step PGD: polar body diagnosis for hemophilia A and array CGH on Trophectoderm cells for chromosomal aberrations. Geburtshilfe Frauenheilkd. 2013;73:812–4.CrossRefGoogle Scholar
  12. 12.
    Magli MC, Gianaroli L, Ferraretti AP, Toschi M, Esposito F, Fasolino MC. The combination of polar body and embryo biopsy does not affect embryo viability. Hum Reprod. 2004;19:1163–9.CrossRefGoogle Scholar
  13. 13.
    Kuliev A, Verlinsky Y. Preimplantation genetic diagnosis in assisted reproduction. Expert Rev Mol Diagn. 2005;5:499–505.CrossRefGoogle Scholar
  14. 14.
    Capalbo A, Romanelli V, Cimadomo D, Girardi L, Stoppa M, Dovere L, et al. Implementing PGD/PGD-A in IVF clinics: considerations for the best laboratory approach and management. J Assist Reprod Genet. 2016;33:1279–86.CrossRefGoogle Scholar
  15. 15.
    Thornhill AR, McGrath JA, Eady RA, Braude PR, Handyside AH. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn. 2001;21:490–7.CrossRefGoogle Scholar
  16. 16.
    Renbaum P, Brooks B, Kaplan Y, Eldar-Geva T, Margalioth EJ, Levy-Lahad E, et al. Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease. Prenat Diagn. 2007;27:317–21.CrossRefGoogle Scholar
  17. 17.
    Thornhill AR, deDie-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, et al. ESHRE PGD consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’. Hum Reprod. 2005;20:35–48.CrossRefGoogle Scholar
  18. 18.
    Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26:33–40.CrossRefGoogle Scholar
  19. 19.
    Eldar-Geva T, Srebnik N, Altarescu G, Varshaver I, Brooks B, Levy-Lahad E, et al. Neonatal outcome after preimplantation genetic diagnosis. Fertil Steril. 2014;102:1016–21.CrossRefGoogle Scholar
  20. 20.
    Desmyttere S, De Rycke M, Staessen C, Liebaers I, De Schrijver F, Verpoest W, et al. Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD. Hum Reprod. 2012;27:288–93.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Shira Priner
    • 1
    • 2
    Email author
  • Gheona Altarescu
    • 2
    • 3
  • Oshrat Schonberger
    • 1
  • Hananel Holzer
    • 1
  • Esther Rubinstein
    • 1
  • Nava Dekel
    • 1
  • Aharon Peretz
    • 1
  • Talia Eldar-Geva
    • 1
    • 2
  1. 1.Reproductive Endocrinology and Genetics Unit, Infertility and IVF DepartmentShaare Zedek Medical CenterJerusalemIsrael
  2. 2.Hebrew University School of MedicineJerusalemIsrael
  3. 3.Medical Genetics Institute, ZOHAR PGD UnitShaare Zedek Medical CenterJerusalemIsrael

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