{"id":102,"title":"Preimplantation Genetic Testing for Structural Rearrangements: A Health Technology Assessment","title_zh":"结构重排的植入前遗传学检测（PGT-SR）：一项卫生技术评估","url":"https://pubmed.ncbi.nlm.nih.gov/42974535","doi":null,"pmid":"42974535","journal":"Ont Health Technol Assess Ser","kind":"paper","lang":"en","published_at":"2026-10-06T00:00:00+00:00","fetched_at":"2026-11-08T03:43:53+00:00","authors":["Ontario Health","Ontario Health"],"primary_topic":"pgt","topics":[{"slug":"pgt","score":6.0,"hits":["pgt","pgt-sr","preimplantation genetic","trophectoderm biopsy"]},{"slug":"art-clinical","score":3.0,"hits":["in vitro fertilization","ivf","live birth"]},{"slug":"early-embryo","score":1.0,"hits":["trophectoderm"]},{"slug":"early-pregnancy","score":1.0,"hits":["pregnancy loss"]},{"slug":"ethics-policy","score":1.0,"hits":["ethical"]}],"topic_score":6.0,"preference_score":5.0,"preference_labels":["可转化到 ART 实验室的发现"],"llm_score":70.0,"final_score":75.0,"score_dims":{"novelty":42,"rigor":74,"impact":65,"relevance":93,"translation":70},"recommend_reason":"方法学规范的卫生技术评估，系统梳理了 PGT-SR 临床有效性的现有证据，明确指出现有证据质量极低，对临床咨询与政策制定有参考价值；但不提供新机制或新数据，结论偏保守。","keywords":["PGT-SR","结构重排","卫生技术评估","GRADE","活产率","自然流产"],"selected":1,"story_id":1,"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":"加拿大安大略省卫生机构对 PGT-SR 开展卫生技术评估，系统检索临床证据并用 RoBANS 2 评估偏倚风险、GRADE 评级证据质量。共纳入 4 项研究，结果显示：与未行 PGT-SR 的 IVF 相比，PGT-SR 的首个移植及累积活产率、临床妊娠与持续妊娠率、自然流产率可能相似；与自然受孕或期待治疗相比，活产率与妊娠所需时间可能相似，自然流产可能减少，多胎妊娠可能增加；但上述证据质量均为极低，结论很不确定。","summary":"BACKGROUND: Preimplantation testing for structural rearrangements (PGT-SR) is used to screen embryos for chromosomal imbalances that may result from parental structural rearrangements. We conducted a health technology assessment of PGT-SR for carriers of structural rearrangements or people who may have a child with a genetic condition affected by structural rearrangements, which included an evaluation of effectiveness. A report describing a rapid review of the qualitative literature, direct patient engagement, a review of published literature examining ethical considerations relating to PGT, and a rapid review of the obstetrical and neonatal harms of PGT using trophectoderm biopsy has been published separately. METHODS: We performed a systematic literature search of the clinical evidence. We assessed the risk of bias of each included study using the Risk of Bias Assessment Tool for Nonrandomized Studies version 2 (RoBANS 2) and the quality of the body of evidence according to Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. RESULTS: We included 4 studies in the clinical evidence review. Compared with in vitro fertilization (IVF) without PGT-SR, PGT-SR may result in similar live birth rates (first transfer and cumulative) (GRADE: Very low), pregnancy rate (clinical and ongoing) (GRADE: Very low), and spontaneous pregnancy loss (GRADE: Very low). Compared with natural conception or expectant clinical management, PGT-SR may result in similar live birth rates (first transfer and cumulative) and time to pregnancy, reduced spontaneous pregnancy loss (GRADE: Very low), and increased multiple gestation pregnancy (GRADE: Very low). CONCLUSIONS: PGT-SR may result in similar outcomes compared with IVF without PGT-SR, may reduce spontaneous pregnancy loss compared with natural conception, and may increase multiple gestation compared with natural conception, although the evidence is very uncertain.","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}}