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.
Masaaki Ban
✦ AI-curated · Sources linked
Case in brief
A man in his early thirties with severe oligozoospermia was found to carry a balanced reciprocal translocation. Genetic counseling covered reproductive risks, PGT-SR and prenatal testing options, expected outcomes, and costs. Because of financial constraints, the couple chose insurance-covered intracytoplasmic sperm injection without PGT-SR. After unsuccessful single embryo transfers, they chose double embryo transfer, then declined invasive prenatal diagnosis and selected NIPT, which was negative for trisomies 21, 18, and 13 but could not assess imbalances related to the paternal translocation. Dichorionic diamniotic twins were delivered at 35 weeks; neither had apparent congenital anomalies. Postnatal chromosome testing was declined.
What made this case unusual
The case illustrates how financial limits shaped reproductive choices despite the couple’s understanding of translocation-related risks, with counseling revisited as treatment and pregnancy decisions evolved.
Diagnostic / clinical pearl
NIPT for common trisomies does not assess chromosomal imbalances arising from a parental translocation; clarify the scope and limitations of each testing option during counseling.
Why it matters
Shared decision-making can connect genetic risk information with patients’ priorities and financial circumstances, while providing ongoing support as reproductive decisions change.