Preimplantation Genetic Testing for Couples with Balanced Chromosomal Rearrangements

Sachin  Shetty; Jiny  Nair; Jnapti  Johnson; Navya  Shetty; Ajay  Kumar J; Nirmala  Thondehalmath; Deepanjali Ganesh; Vidyalakshmi R  Bhat; Sajana M; Anjana R; Rajsekhar  Nayak; Devika  Gunasheela; Jayarama S  Kadandale; Swathi  Shetty

doi:10.18502/jri.v23i3.10013

Sachin Shetty Tattvagene Pvt. Ltd., Bangalore, India
Jiny Nair Tattvagene Pvt. Ltd., Bangalore, India
Jnapti Johnson Tattvagene Pvt. Ltd., Bangalore, India
Navya Shetty Tattvagene Pvt. Ltd., Bangalore, India
Ajay Kumar J Tattvagene Pvt. Ltd., Bangalore, India
Nirmala Thondehalmath Gunasheela Surgical and Maternity Hospital, Bangalore, India
Deepanjali Ganesh Gunasheela Surgical and Maternity Hospital, Bangalore, India
Vidyalakshmi R Bhat Gunasheela Surgical and Maternity Hospital, Bangalore, India
Sajana M Gunasheela Surgical and Maternity Hospital, Bangalore, India
Anjana R Gunasheela Surgical and Maternity Hospital, Bangalore, India
Rajsekhar Nayak Tattvagene Pvt. Ltd., Bangalore, India
Devika Gunasheela Tattvagene Pvt. Ltd., Bangalore, India
Jayarama S Kadandale Tattvagene Pvt. Ltd., Bangalore, India
Swathi Shetty Tattvagene Pvt. Ltd., Bangalore, India

DOI: https://doi.org/10.18502/jri.v23i3.10013

Keywords: Aneuploidy, Balanced chromosomal rearrangements, In vitro fertilization, Inversion, Preim-plantation genetic testing, Reciprocal translocation, Recurrent miscarriages, Robertsonian translocation.

Abstract

Background: Chromosomal rearrangements play an important role in infertility. Carriers of chromosomal rearrangements have a lower chance of producing normal or balanced gametes due to abnormal segregation of chromosomes at meiosis, which leads to recurrent spontaneous abortions and infertility. Preimplantation genetic testing for structural chromosome rearrangements (PGT-SR) is offered to couples who have balanced chromosomal rearrangements in order to select embryos with a balanced karyotype prior to implantation, thereby increasing the chances of pregnancy. The purpose of the current study was to assess the outcomes of PGT-SR in patients carrying various balanced chromosomal rearrangements and to assess their clinical pregnancy outcome after in vitro fertilization (IVF).

Methods: In this study, infertile couples with balanced chromosomal abnormalities undergoing PGT-SR were retrospectively analyzed at a single fertility center from January 2016 to December 2019.

Results: PGT-SR was performed on 87 embryos from 22 couples in whom one partner carried a balanced translocation or an inversion. Fifty-seven (65.5%) of these embryos had unbalanced or sporadic aneuploidies, 30 (34.5%) embryos were normal or chromosomally balanced, which were then transferred in 18 couples. A higher rate of unbalanced translocations in comparison to sporadic aneuploidies was observed in couples with reciprocal translocation. The live birth rate per embryo transfer was found to be 66.6% (12/18).

Conclusion: PGT-SR is a useful tool in selecting normal or balanced embryos for transfer in IVF, which could lead to a pregnancy by reducing the chance of miscarriages due to chromosome aneuploidy in couples with balanced chromosomal rearrangements.