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

Divyesh Upadhyay, Rajia Al Halaby, Sudha Anandt, Firas Albuz, Merlin Mary Varghese et al.

To present a case of a couple with 20 years of infertility and 10 recurrent in\u160?vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation genetic testing for structural rearrangements (PGT-SR) and utilizing IVF-intracytoplasmic sperm injection to achieve a successful pregnancy. Case report. Al Ain Fertility Center, Abu Dhabi, United Arab Emirates. A 40-year-old male patient and a 37-year-old female patient with a history of infertility and recurrent IVF failures. In\u160?vitro fertilization-intracytoplasmic sperm injection with high-resolution karyotype and PGT-SR. Identification of chromosomal abnormalities, successful embryo development, pregnancy outcome, and newborn karyotyping. Karyotyping revealed a paternal complex chromosome rearrangement, t(3;4;12) (q21;q33;q21), and a chromosomal polymorphism in the female (1qh+). In\u160?vitro fertilization-intracytoplasmic sperm injection with PGT-SR produced one euploid/balanced female embryo from 20 embryos across 8 cycles. The patient conceived after hormone replacement therapy and frozen embryo transfer, resulting in an uneventful, full-term pregnancy and delivery of a healthy baby via C-section. Newborn karyotyping was normal (46,XX). High-resolution karyotype and PGT-SR should be offered to patients undergoing IVF, especially those with severe male factors, recurrent IVF failures, implantation failures, or recurrent pregnancy losses, to enhance the chances of a successful pregnancy.

Digital object identifier (DOI): 10.1016/j.xfre.2024.10.006