Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent spontaneous abortion: a case report.

BACKGROUND

Balanced reciprocal translocations and Robertsonian translocations represent two of the most prevalent structural chromosomal rearrangements and may lead to reproductive challenges, including recurrent spontaneous abortion (RSA). The co-occurrence of both translocation types in a single individual constitutes an exceptionally rare cytogenetic finding with significant clinical implications.

CASE PRESENTATION: We present a 36-year-old female with a history of RSA who was found to harbor a compound chromosomal rearrangement consisting of a balanced reciprocal translocation t(2;5)(q33;p13.3) and a Robertsonian translocation der(13;15)(q10;q10). High-resolution karyotyping confirmed the identical rearrangement pattern in the proband's daughter. The patient underwent intracytoplasmic sperm injection with preimplantation genetic testing for structural rearrangements (PGT-SR). Among seven blastocysts biopsied, only one euploid embryo with normal karyotype was identified and subsequently transferred in a natural cycle, resulting in a successful singleton pregnancy with normal prenatal cytogenetic findings.

DISCUSSION AND

CONCLUSION

This case highlights the critical role of accurate cytogenetic diagnosis and the application of PGT-SR in improving reproductive outcomes in patients with complex chromosome rearrangement. It also underscores the importance of chromosomal karyotyping in detecting complex chromosomal rearrangements-not only for individuals with RSA but also for their family members. Individualized reproductive planning and genetic counseling remain pivotal for managing such challenging cases.