Abstract

Background: Identifying the cause of recurrent pregnancy loss (RPL) helps in the direct management of future pregnancies. In 3%-4% of cases, a chromosomal structural rearrangement is identified in the couple. Pre-implantation genetic testing - structural rearrangements (PGT-SR) is an accepted practice for such couples opting for pregnancy through in-vitro fertilization. However, the result interpretation and clinical outcome for mosaic embryo transfer have limited predictions.
Case Presentation: In this case study, we describe the genetic tests involved in establishing the cause of RPL followed by management through PGT and prenatal diagnosis. The couple was identified with a structural rearrangement and opted for PGT-SR (structural rearrangement) which revealed a mosaic embryo involving multiple chromosomes. The case study describes the implication of the transfer of mosaic embryos, followed up with prenatal tests with complex results, its interpretation, and genetic counseling.
Conclusion: The case reiterates the benefit of thorough genetic evaluation for pregnancy management by using multiple genetic tests for couples with RPL. It aids in decision-making for complex genetic results in prenatal scenarios.

Key words: Recurrent pregnancy loss, PGT-SR, mosaic embryo, genetic counseling.