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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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.
期刊介绍：
Reproductive Medicine and Biology (RMB) is the official English journal of the Japan Society for Reproductive Medicine, the Japan Society of Fertilization and Implantation, the Japan Society of Andrology, and publishes original research articles that report new findings or concepts in all aspects of reproductive phenomena in all kinds of mammals. Papers in any of the following fields will be considered: andrology, endocrinology, oncology, immunology, genetics, function of gonads and genital tracts, erectile dysfunction, gametogenesis, function of accessory sex organs, fertilization, embryogenesis, embryo manipulation, pregnancy, implantation, ontogenesis, infectious disease, contraception, etc.
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