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

TL;DR

A couple with balanced translocations had a successful pregnancy using PGT-SR, leading to the birth of a healthy child.

Contribution

Demonstrates the effectiveness of PGT-SR in dual-carrier couples with balanced translocations.

Findings

One euploid and structurally balanced embryo was selected and resulted in a successful pregnancy.

The child was born healthy and inherited both parental translocations.

PGT-SR proved feasible for rare dual-carrier cases with complex chromosomal abnormalities.

Abstract

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.

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.

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.

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