{"id":104,"title":"Preimplantation Genetic Testing for Monogenic Disorders: A Health Technology Assessment","title_zh":"单基因病植入前遗传学检测：一项卫生技术评估","url":"https://pubmed.ncbi.nlm.nih.gov/42974227","doi":null,"pmid":"42974227","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":7.0,"hits":["pgt","pgt-m","preimplantation genetic","trophectoderm biopsy"]},{"slug":"art-clinical","score":5.0,"hits":["clinical pregnancy","in vitro fertilization","ivf","live birth","ongoing pregnancy"]},{"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":7.0,"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":35,"rigor":72,"impact":62,"relevance":95,"translation":55},"recommend_reason":"该卫生技术评估清晰呈现了PGT-M临床有效性证据的质量与空白，对临床咨询和政策制定有参考价值；但无新原始数据，且核心结论为证据不确定，转化指导有限。","keywords":["单基因病","植入前遗传学检测","卫生技术评估","系统综述","临床有效性","IVF"],"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Ontario Health对单基因病植入前遗传学检测（PGT-M）开展卫生技术评估，系统检索临床证据并纳入4篇系统综述，采用AMSTAR 2评价质量（2篇低质量、2篇极低质量）。未发现与自然受孕或IVF联合产前诊断等对照策略比较的数据；PGT-M对活产、临床妊娠、持续妊娠和流产的影响高度不确定，假阴性率虽低但证据不确定，亲代心理结局、生活质量及达到可移植胚胎所需周期数缺乏证据。结论认为PGT-M临床有效性尚无定论。","summary":"BACKGROUND: Monogenic (or single gene) disorders are caused by 1 or more pathogenic variants in a single gene. Monogenic disorders are inherited and can result in substantial morbidity, disability, and mortality. Preimplantation genetic testing for monogenic disorders (PGT-M) can be used to screen embryos that are created via in vitro fertilization (IVF) for pathogenic variants of interest. We conducted a health technology assessment of IVF with PGT-M among people at risk of transmitting single gene disorders with an evaluation of clinical 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 conducted an overview of reviews to describe the body of systematic review evidence. We assessed the quality of each included systematic review using AMSTAR 2 (A Measurement Tool to Assess Systematic Reviews 2). RESULTS: We included 4 systematic reviews in the clinical evidence review: 2 were of low quality and 2 were of critically low quality. We did not identify any data evaluating PGT-M with relevant comparators, such as conception (natural or via IVF) with prenatal diagnostic testing. The evidence is very uncertain about the effect of PGT-M on live births, clinical pregnancy, ongoing pregnancy, and pregnancy loss. The reported frequency of false-negative test results appears low, but the evidence is very uncertain. The impact on parental psychological outcomes is unknown. There was no evidence identified on number of IVF cycles to achieve an unaffected embryo or live birth, or parental quality of life. CONCLUSIONS: Owing to the current body of noncomparative evidence, the clinical effectiveness of PGT-M is inconclusive.","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}}