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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
Genetics
  • 124 Downloads

Abstract

Purpose

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

Methods

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.

Results

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.

Conclusions

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.

Keywords

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

Notes

Acknowledgements

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.

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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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