{"id":100,"title":"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","title_zh":"面对PGT-SR经济障碍的平衡易位男性携带者遗传咨询与共享决策：一例病例研究","url":"https://pubmed.ncbi.nlm.nih.gov/42974663","doi":"10.1002/jgc4.70317","pmid":"42974663","journal":"J Genet Couns","kind":"paper","lang":"en","published_at":null,"fetched_at":"2026-11-08T03:43:53+00:00","authors":["Ban M"],"primary_topic":"pgt","topics":[{"slug":"pgt","score":5.0,"hits":["pgt-sr","preimplantation genetic"]},{"slug":"male","score":2.0,"hits":["oligozoospermia","sperm"]},{"slug":"art-clinical","score":2.0,"hits":["embryo transfer","intracytoplasmic sperm injection"]},{"slug":"early-pregnancy","score":1.0,"hits":["miscarriage"]}],"topic_score":5.0,"preference_score":5.0,"preference_labels":["可转化到 ART 实验室的发现"],"llm_score":62.0,"final_score":67.0,"score_dims":{"novelty":45,"rigor":35,"impact":50,"relevance":88,"translation":60},"recommend_reason":"病例报告生动呈现经济障碍下PGT-SR共享决策与后续产前选择，对遗传咨询和临床沟通有参考价值；但单例证据有限，不能评估决策模式有效性。","keywords":["平衡相互易位","PGT-SR","共享决策","遗传咨询","经济障碍","NIPT"],"selected":1,"story_id":6,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-art","source_name":"PubMed · 辅助生殖临床","source_tier":1,"mention_count":2,"has_interpretation":false,"journal_key":null,"journal_tier":"unknown","journal_if":null,"is_mock":false,"summary_zh":"一例严重少精子症男性发现平衡相互易位，因经济障碍难以选择PGT-SR。遗传咨询与共享决策中，夫妇优先避免因费用中断治疗，选择医保覆盖的ICSI而不做PGT-SR；单胚胎移植失败后改双胚胎移植，妊娠后拒绝侵入性产前诊断而选NIPT，35周分娩双绒双羊双胎，新生儿查体无明显异常。作者以三谈话模型回顾决策，强调费用约束下的持续咨询支持，但单例不能评估SDM效果。","summary":"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.","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}