Genetic Counseling and Shared Decision‐Making for a Male Carrier of a Balanced Reciprocal Translocation Facing Financial Barriers to Preimplantation Genetic Testing for Structural Rearrangements: A Case Study

Preimplantation genetic testing for structural rearrangements (PGT-SR) is an important reproductive option for carriers of balanced reciprocal translocations. However, financial barriers may limit access, highlighting the need for decision support that considers patients' values and socioeconomic circumstances alongside genetic risks. A man in his early thirties was diagnosed with a balanced reciprocal translocation during evaluation for severe oligozoospermia. Genetic counseling addressed genetic risks, the benefits and limitations of PGT-SR, prenatal testing options, anticipated treatment outcomes, and financial burdens. Through shared decision-making (SDM), the couple weighed reducing genetic risks against maintaining their ability to continue treatment. Despite concerns about genetic risks, they prioritized avoiding treatment discontinuation due to financial burdens and chose intracytoplasmic sperm injection covered by public health insurance without PGT-SR. Additional counseling was provided after repeated unsuccessful single embryo transfers. After considering the risks of twin pregnancy and the limit on the number of embryo transfers covered by insurance, the couple chose double embryo transfer. Following conception, they declined invasive prenatal diagnosis because of concerns about procedure-related miscarriage and chose noninvasive prenatal testing (NIPT), understanding that it could not assess chromosomal imbalances arising from the paternal translocation. NIPT results were negative for trisomies 21, 18, and 13. Dichorionic diamniotic twins were delivered at 35 weeks of gestation. Postnatal chromosomal testing was not performed at the couple's request. Neither infant had any apparent congenital anomalies on physical examination at birth. The decision-making process was retrospectively examined using Elwyn et al.'s three-talk model. Although the effectiveness of SDM cannot be assessed from a single case, this report illustrates how genetic counseling linked medical information with the couple's priorities and provided ongoing support for decisions as treatment and pregnancy progressed under financial constraints.