{"id":316,"title":"Preimplantation genetic testing in myotonic dystrophy type 1: outcomes in a nationwide Dutch cohort","title_zh":"强直性肌营养不良1型（DM1）的植入前遗传学检测：荷兰全国队列结局","url":"https://pubmed.ncbi.nlm.nih.gov/42971774","doi":"10.1136/jnnp-2026-339561","pmid":"42971774","journal":"J Neurol Neurosurg Psychiatry","kind":"paper","lang":"en","published_at":"2026-11-02T00:00:00+00:00","fetched_at":"2026-11-08T03:44:05+00:00","authors":["Bruijnes JE","van Veen FCAP","Heijligers M","van Golde RJT","van Buul-van Zwet ML","Derijck AAHA","Corsten-Janssen N","Faber CG","Vanhoutte EK","Joosten IBT"],"primary_topic":"pgt","topics":[{"slug":"pgt","score":3.0,"hits":["preimplantation genetic"]}],"topic_score":3.0,"preference_score":0.0,"preference_labels":[],"llm_score":76.0,"final_score":76.0,"score_dims":{"novelty":68,"rigor":78,"impact":72,"relevance":92,"translation":80},"recommend_reason":"DM1为重复扩增疾病，PGT-M技术难度高且缺乏国家级大样本结局数据，该全国队列对遗传咨询与生殖决策有直接参考价值；但缺少摘要，具体样本量与活产结局需查原文核实。","keywords":["强直性肌营养不良1型","植入前遗传学检测","PGT-M","三核苷酸重复扩增","全国队列","遗传咨询"],"selected":1,"story_id":187,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-endo-genetics","source_name":"PubMed · 生殖内分泌/遗传/保存","source_tier":1,"mention_count":1,"has_interpretation":false,"journal_key":null,"journal_tier":"unknown","journal_if":null,"is_mock":false,"summary_zh":"该研究基于荷兰全国队列，回顾性分析强直性肌营养不良1型（DM1）家系接受植入前遗传学检测（PGT-M）的结局，通讯作者团队来自临床遗传学与生殖医学中心，发表于J Neurol Neurosurg Psychiatry。由于数据库未提供摘要与正文，本文无法获知样本量、检测策略（连锁分析/直接突变检测）、周期数与活产率等具体结果，也无法判断是否涉及三核苷酸重复扩增检测的技术难点或卵巢刺激对DM1表型的影响。可确定的是，这是该罕见遗传病PGT应用的大样本国家级真实世界证据，对遗传咨询与生殖决策具有参考价值，建议读者查阅原文获取具体数据与结论。","summary":"","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}}