Successful Live Birth Following PGT ‐ SR in a Couple Who Were Both Carriers of Balanced Reciprocal Translocations Identified During Recurrent Pregnancy Loss Workup: A Case Report

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Authors: Hiroaki Negishi, Daisuke Higeta, Satoh Maki, Setsuko Satoh, Youko Matsumiya, Nanami Takano, Hidemi Yokota, Mikako Yokota, Yoshimasa Yokota
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References: 21

Abstract

Case: A non-consanguineous couple with recurrent pregnancy loss was found to be carriers of two different balanced reciprocal translocations: 46,XX,t(13;16)(q14;q23) and 46,XY,t(4;12)(q21.1;q15). They underwent IVF with PGT-SR, from which seven blastocysts were obtained. Outcome: Only one embryo was identified as both euploid and structurally balanced. This embryo was transferred in a hormone replacement cycle, resulting in a successful pregnancy and the birth of a healthy male infant who inherited both parental balanced translocations. Conclusion: This case demonstrates the feasibility and utility of PGT-SR in rare dual-carrier cases, underscoring the importance of tailored genetic counseling, careful embryo selection, and realistic prognostic discussion for couples with complex chromosomal abnormalities.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Assisted Reproductive Technology and Twin Pregnancy Reproductive Health and Technologies

Publication details

Journal / source
Reproductive Medicine and Biology
Volume
25
Issue
1
Pages
e70022–e70022
Publication date
1 January 2026
Language
EN