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
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