{"id":103,"title":"Preimplantation Genetic Testing for Aneuploidy: A Health Technology Assessment","title_zh":"植入前非整倍体遗传学检测（PGT-A）的健康技术评估：临床有效性、证据质量与公共资助预算影响","url":"https://pubmed.ncbi.nlm.nih.gov/42974527","doi":null,"pmid":"42974527","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":"art-clinical","topics":[{"slug":"art-clinical","score":9.0,"hits":["assisted reproductive","clinical pregnancy","cumulative live birth","embryo transfer","in vitro fertilization","ivf","live birth","live birth rate","ongoing pregnancy"]},{"slug":"pgt","score":7.0,"hits":["pgt","pgt-a","preimplantation genetic","trophectoderm biopsy"]},{"slug":"early-embryo","score":1.0,"hits":["trophectoderm"]},{"slug":"early-pregnancy","score":1.0,"hits":["pregnancy loss"]},{"slug":"contraception-health","score":1.0,"hits":["birth rate"]},{"slug":"ethics-policy","score":1.0,"hits":["ethical"]}],"topic_score":9.0,"preference_score":5.0,"preference_labels":["可转化到 ART 实验室的发现"],"llm_score":71.0,"final_score":76.0,"score_dims":{"novelty":40,"rigor":85,"impact":72,"relevance":90,"translation":70},"recommend_reason":"该评估以 GRADE 框架汇总 6 项 RCT，并补充预算影响分析，为 PGT-A 的临床与卫生政策决策提供了高质量、可直接引用的证据基础，也提示常规 PGT-A 的获益有限且不确定，值得临床与实验室人员了解。","keywords":["PGT-A","非整倍体","健康技术评估","累积活产率","系统评价","预算影响"],"selected":1,"story_id":423,"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 Ontario Health 对接受 IVF 人群开展 PGT-A 的健康技术评估：系统检索并纳入 6 项 RCT，采用 Cochrane 偏倚风险工具与 GRADE 分级评价证据，并测算 Ontario 省公共资助的预算影响。结果显示，PGT-A 可能不改善累积活产率（证据极低），首次计划移植后每人的活产率差异很小或无差异（低），可能降低累积临床妊娠丢失频率（低），但证据高度不确定，未见缩短至活产时间的获益；未来 5 年公共资助将新增约 1.39 亿加元支出。","summary":"BACKGROUND: In vitro fertilization (IVF) is a type of assisted reproductive technology that can help couples or individuals conceive a child. Embryos with extra or missing chromosomes, known as aneuploidy, can result in a failure to implant, early spontaneous pregnancy loss, or lead to a child born with a chromosomal abnormality. Preimplantation genetic testing for aneuploidy (PGT-A) is a genetic screening test used to identify embryos with aneuploidy and select or prioritize embryos with the correct number of chromosomes for transfer. We conducted a health technology assessment of PGT-A for people undergoing IVF, which included an evaluation of the effectiveness and budget impact of publicly funding PGT-A. 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 Cochrane Risk of Bias tool and the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We performed a systematic economic literature search, but we did not conduct a cost-utility analysis because of the uncertainty in the benefit of PGT-A. We also analyzed the budget impact of publicly funding PGT-A for individuals undergoing IVF in Ontario. RESULTS: We included 6 RCTs in the clinical evidence review. We found PGT-A may not improve the cumulative live birth rate (GRADE: Very low) and may result in little to no difference in live birth rate after the first planned embryo transfer when evaluated per person undergoing PGT-A (GRADE: Low). PGT-A may not improve, and may decrease, cumulative pregnancy rates (GRADE: Low). After the first planned embryo transfer, PGT-A may not improve ongoing pregnancy (GRADE: Moderate) and may result in little to no difference in clinical pregnancy rate (GRADE: Very low) when evaluated per person receiving PGT-A. PGT-A may reduce the cumulative frequency of clinical pregnancy loss (GRADE: Low), but the evidence is very uncertain about the effect after the first planned embryo transfer when evaluated per person (GRADE: Very low). The annual budget impact of publicly funding PGT-A in Ontario over the next 5 years ranges from an additional $22.2 million in year 1 to $33.5 million in year 5, for a total budget impact of $139 million. CONCLUSIONS: Overall, the evidence suggests PGT-A may not improve, or may result in little to no difference, in live birth rate or pregnancy rate compared with IVF alone, although the evidence is highly uncertain. The evidence suggests PGT-A may reduce spontaneous pregnancy loss; however, results remain very uncertain and no benefit in time to live birth was observed. We estimate that publicly funding PGT-A in Ontario would result in additional costs of $139 million over the next 5 years.","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}}