{"id":287,"title":"Genetic analysis of biopsy-related droplets and its potential applications in PGT-SR patients","title_zh":"囊胚活检相关液滴的遗传学分析及其在PGT-SR患者中的潜在应用","url":"https://pubmed.ncbi.nlm.nih.gov/42984540","doi":"10.3389/fendo.2026.1946046","pmid":"42984540","journal":"Front Endocrinol (Lausanne)","kind":"paper","lang":"en","published_at":"2026-10-21T00:00:00+00:00","fetched_at":"2026-11-08T03:44:04+00:00","authors":["Huang Z","Chen Y","Cai X","Zhu S","Wang J","Xie R","Shi H","Yu A","Zheng B","Sun Y"],"primary_topic":"pgt","topics":[{"slug":"pgt","score":7.0,"hits":["euploid","pgt","pgt-sr","preimplantation genetic"]},{"slug":"early-embryo","score":2.0,"hits":["blastocyst","blastocysts"]},{"slug":"art-clinical","score":1.0,"hits":["clinical pregnancy"]}],"topic_score":7.0,"preference_score":0.0,"preference_labels":[],"llm_score":79.0,"final_score":79.0,"score_dims":{"novelty":82,"rigor":72,"impact":76,"relevance":95,"translation":80},"recommend_reason":"将活检废弃液滴转化为可检测的遗传材料，为PGT-SR提供潜在的无创或补救性验证路径，并首次报告其与临床妊娠结局的关联；但临床结局样本量小（n=37）、单中心，结论需外部验证。","keywords":["囊胚活检","活检相关液滴","PGT-SR","拷贝数变异测序","无创胚胎检测","临床妊娠率"],"selected":1,"story_id":349,"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":"front-endo","journal_tier":"standard","journal_if":3.9,"is_mock":false,"summary_zh":"该研究收集218枚囊胚活检过程中产生的活检、洗涤与暂存三类液滴（合并约15 µL），进行全基因组扩增与CNV测序，以评估活检相关液滴（BRD）在植入前遗传学检测结构重排（PGT-SR）中的辅助价值。69.27%的BRD文库浓度≥0.5 ng/µL，CNV检测成功率为94.04%；142例成功检测者中87.32%与PGT结果倍性一致，结构重排异常囊胚中完全或部分一致率为77.53%。37枚移植的活检整倍体囊胚中，BRD整倍体或不可检出组的临床妊娠率（85.71%、86.96%）明显高于BRD非整倍体组（28.57%）。作者结论：BRD检测可作为PGT-SR常规活检的辅助手段。","summary":"PURPOSE: To investigate genetic material in biopsy-related droplets (BRDs) from blastocyst biopsy and its potential applications in preimplantation genetic testing for structural rearrangements (PGT-SR). METHODS: BRDs were collected from 218 blastocysts by combining three types of biopsy-related droplets (biopsy, washing, and temporary storage droplets) into ~15 µL samples. Genomic DNA amplification and copy number variation (CNV) sequencing library preparation were performed. Next-generation sequencing (NGS) was conducted on BRD libraries with concentrations ≥0.5 ng/µL. RESULTS: 69.27% of BRDs had a sequencing library concentration (CSL) ≥ 0.5 ng/µL, with a CNV detection success rate of 94.04%. CSL was significantly higher in biopsy-classified non-euploid than euploid blastocysts (P < 0.0001). Among 142 BRDs with successful CNV detection, 87.32% showed ploidy concordance with PGT findings. Complete or partial concordance was observed in 77.53% of blastocysts with structural rearrangement-related abnormalities. In 37 transferred biopsy-euploid blastocysts, clinical pregnancy rates were higher in the BRD-euploid and undetectable/non-informative BRD groups than in the BRD-non-euploid group (85.71% and 86.96% vs. 28.57%). In seven blastocysts undergoing secondary biopsy after initial testing failure, BRD and secondary biopsy results showed 85.71% ploidy concordance. CONCLUSIONS: BRD-based genetic testing may serve as an adjunct to conventional biopsy-based testing in PGT-SR.","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}}