Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Preimplantation Genetic Testing for Couples with Balanced Chromosomal Rearrangements

Authors
Sachin Shetty 1
Jiny Nair 1
Jnapti Johnson 1
Navya Shetty 1
Ajay Kumar J 1
Nirmala Thondehalmath 2
Deepanjali Ganesh 2
Vidyalakshmi R Bhat 2
Sajana M 2
Anjana R 2
Rajsekhar Nayak 3
Devika Gunasheela 3
Jayarama Kadandale 4
Swathi Shetty 4
1 Tattvagene Pvt. Ltd, Bangalore, India
2 Gunasheela Surgical and Maternity Hospital, Bangalore, India
3 Tattvagene Pvt. Ltd, Bangalore, India; Gunasheela Surgical and Maternity Hospital, Bangalore, India
4 Gunasheela Surgical and Maternity Hospital, Bangalore, India; Centre for Human Genetics Biotech Park, Bengaluru, India
10.18502/jri.v23i3.10013
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.
Keywords
Aneuploidy
Balanced chromosomal rearrangements
In vitro fertilization
Inversion
Preimplantation genetic testing
Reciprocal translocation
Recurrent miscarriages
Robertsonian translocation
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Journal of Reproduction & Infertility
Volume 23, Issue 3
Summer 2022
Pages 213-223