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.

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.