• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

囊胚穿刺术:用于植入前基因检测的DNA来源。一项试点研究的结果。

Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study.

作者信息

Gianaroli Luca, Magli M Cristina, Pomante Alessandra, Crivello Anna M, Cafueri Giulia, Valerio Marzia, Ferraretti Anna P

机构信息

Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione, Bologna, Italy.

Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione, Bologna, Italy.

出版信息

Fertil Steril. 2014 Dec;102(6):1692-9.e6. doi: 10.1016/j.fertnstert.2014.08.021. Epub 2014 Sep 23.

DOI:10.1016/j.fertnstert.2014.08.021
PMID:25256935
Abstract

OBJECTIVE

To investigate the presence of DNA in blastocyst fluids (BFs) and to estimate whether the chromosomal status predicted by its analysis corresponds with the ploidy condition in trophectoderm (TE) cells, the whole embryo, and that predicted by polar bodies (PBs) or blastomeres.

DESIGN

Prospective study.

SETTING

In vitro fertilization unit.

PATIENT(S): Seventeen couples undergoing preimplantation genetic screening with the use of array comparative genomic hybridization on PBs (n = 12) or blastomeres (n = 5).

INTERVENTION(S): BFs and TE cells were retrieved from 51 blastocysts for separate chromosomal analysis.

MAIN OUTCOME MEASURE(S): Presence of DNA in BFs and assessment of the corresponding chromosome condition; correlation with the results in TE cells and those predicted by the analysis done at earlier stages.

RESULT(S): DNA was detected in 39 BFs (76.5%). In 38 of 39 cases (97.4%) the ploidy condition of BFs was confirmed in TE cells, and the rate of concordance per single chromosome was 96.6% (904/936). In relation to the whole embryo, the ploidy condition corresponded in all cases with a per-chromosome concordance of 98.1%. The testing of PBs and blastomeres had 93.3% and 100% prediction of BF ploidy condition with a concordance per chromosome of 93.5% and 94%, respectively.

CONCLUSION(S): Blastocentesis could represent an alternative source of material for chromosomal testing, because the BF is highly predictive of the embryo ploidy condition and chromosome content. Our data confirm the relevance of the oocyte and of the early-cleavage embryo in determining the ploidy condition of the resulting blastocyst.

摘要

目的

研究囊胚液(BF)中DNA的存在情况,并评估通过其分析预测的染色体状态是否与滋养外胚层(TE)细胞、整个胚胎以及通过极体(PB)或卵裂球预测的倍性状况相符。

设计

前瞻性研究。

地点

体外受精单位。

患者

17对接受植入前基因筛查的夫妇,使用PB(n = 12)或卵裂球(n = 5)的阵列比较基因组杂交技术。

干预措施

从51个囊胚中获取BF和TE细胞进行单独的染色体分析。

主要观察指标

BF中DNA的存在情况以及相应染色体状况的评估;与TE细胞结果以及早期阶段分析预测结果的相关性。

结果

在39份BF中检测到DNA(76.5%)。在39例中的38例(97.4%)中,BF的倍性状况在TE细胞中得到证实,单条染色体的一致率为96.6%(904/936)。相对于整个胚胎,倍性状况在所有病例中均相符,每条染色体的一致率为98.1%。PB和卵裂球检测对BF倍性状况的预测率分别为93.3%和100%,每条染色体的一致率分别为93.5%和94%。

结论

囊胚穿刺术可作为染色体检测的另一种材料来源,因为BF对胚胎倍性状况和染色体含量具有高度预测性。我们的数据证实了卵母细胞和早期卵裂胚胎在确定所得囊胚倍性状况方面的相关性。

相似文献

1
Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study.囊胚穿刺术:用于植入前基因检测的DNA来源。一项试点研究的结果。
Fertil Steril. 2014 Dec;102(6):1692-9.e6. doi: 10.1016/j.fertnstert.2014.08.021. Epub 2014 Sep 23.
2
Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid?植入前基因检测:极体、卵裂球、滋养外胚层细胞还是囊胚腔液?
Fertil Steril. 2016 Mar;105(3):676-683.e5. doi: 10.1016/j.fertnstert.2015.11.018. Epub 2015 Dec 1.
3
Deoxyribonucleic acid detection in blastocoelic fluid: a new predictor of embryo ploidy and viable pregnancy.囊胚腔液中脱氧核糖核酸检测:胚胎倍性和可存活妊娠的新预测指标。
Fertil Steril. 2019 Jan;111(1):77-85. doi: 10.1016/j.fertnstert.2018.09.016. Epub 2018 Dec 5.
4
Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development.极体、卵裂球和滋养层的序贯综合染色体分析:对胚胎发育的植入前窗期中的女性减数分裂错误和染色体分离的深入了解。
Hum Reprod. 2013 Feb;28(2):509-18. doi: 10.1093/humrep/des394. Epub 2012 Nov 11.
5
Polar body analysis by array comparative genomic hybridization accurately predicts aneuploidies of maternal meiotic origin in cleavage stage embryos of women of advanced maternal age.利用 array comparative genomic hybridization 对极体进行分析可准确预测高龄妇女卵裂期胚胎中母源性减数分裂非整倍体。
Hum Reprod. 2013 May;28(5):1426-34. doi: 10.1093/humrep/det053. Epub 2013 Mar 10.
6
Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage.囊胚期应用 array comparative genomic hybridization 进行染色体结构重排的胚胎植入前遗传学诊断。
Fertil Steril. 2017 Jan;107(1):212-219.e3. doi: 10.1016/j.fertnstert.2016.09.045. Epub 2016 Oct 25.
7
A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model.在异质性线粒体小鼠模型中对线粒体疾病植入前基因诊断适用性的系统分析。
Hum Reprod. 2014 Apr;29(4):852-9. doi: 10.1093/humrep/deu016. Epub 2014 Feb 12.
8
FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage.对先前经过 array-CGH 筛选的囊胚的内细胞团和滋养外胚层样本进行 FISH 重新分析,结果显示诊断的准确性很高,囊胚阶段的嵌合体对诊断没有重大影响。
Hum Reprod. 2013 Aug;28(8):2298-307. doi: 10.1093/humrep/det245. Epub 2013 Jun 5.
9
Blastocoel fluid from differentiated blastocysts harbors embryonic genomic material capable of a whole-genome deoxyribonucleic acid amplification and comprehensive chromosome microarray analysis.来自分化囊胚的囊胚腔液含有能够进行全基因组脱氧核糖核酸扩增和全面染色体微阵列分析的胚胎基因组物质。
Fertil Steril. 2015 Aug;104(2):418-25. doi: 10.1016/j.fertnstert.2015.04.028. Epub 2015 May 23.
10
Abnormally fertilized oocytes can result in healthy live births: improved genetic technologies for preimplantation genetic testing can be used to rescue viable embryos in in vitro fertilization cycles.异常受精的卵母细胞可导致健康的活产:用于胚胎植入前基因检测的改进基因技术可用于在体外受精周期中挽救有活力的胚胎。
Fertil Steril. 2017 Dec;108(6):1007-1015.e3. doi: 10.1016/j.fertnstert.2017.08.004. Epub 2017 Sep 15.

引用本文的文献

1
Non-Invasive Preimplantation Genetic Testing: Cell-Free DNA Detection in Embryo Culture Media Using a Plasmonic Biosensor.非侵入性植入前基因检测:使用表面等离子体生物传感器检测胚胎培养基中的游离DNA
Anal Chem. 2025 Sep 9;97(35):19241-19248. doi: 10.1021/acs.analchem.5c03164. Epub 2025 Aug 28.
2
Non-Invasive Preimplantation Genetic Testing.非侵入性胚胎植入前基因检测
Genes (Basel). 2025 Apr 30;16(5):552. doi: 10.3390/genes16050552.
3
Add-On Technologies That Aim to Improve Oocyte Quality and Embryo Implantation Potential.旨在提高卵母细胞质量和胚胎着床潜力的附加技术。
Medicina (Kaunas). 2025 Feb 20;61(3):367. doi: 10.3390/medicina61030367.
4
Evaluation of utilization of amplified blastocoel fluid DNA gel electrophoresis band intensity as an additional minimally invasive approach in embryo selection: A cross-sectional study.评估扩增囊胚腔液DNA凝胶电泳条带强度在胚胎选择中作为一种额外的微创方法的应用:一项横断面研究。
Int J Reprod Biomed. 2024 Jan 10;22(11):907-918. doi: 10.18502/ijrm.v22i11.17823. eCollection 2024 Nov.
5
Advancements and Challenges in Preimplantation Genetic Testing for Aneuploidies: In the Pathway to Non-Invasive Techniques.非整倍体植入前基因检测的进展与挑战:通向无创技术之路
Genes (Basel). 2024 Dec 17;15(12):1613. doi: 10.3390/genes15121613.
6
Current research status and clinical applications of noninvasive preimplantation genetic testing: A review.当前无创性胚胎植入前遗传学检测的研究现状与临床应用:综述
Medicine (Baltimore). 2024 Oct 4;103(40):e39964. doi: 10.1097/MD.0000000000039964.
7
Preimplantation genetic testing: A narrative review.植入前基因检测:一篇综述。
Porto Biomed J. 2024 Jul 11;9(4):262. doi: 10.1097/j.pbj.0000000000000262. eCollection 2024 Jul-Aug.
8
Advanced strategies for single embryo selection in assisted human reproduction: A review of clinical practice and research methods.人类辅助生殖中单胚胎选择的先进策略:临床实践与研究方法综述
Clin Exp Reprod Med. 2025 Mar;52(1):8-29. doi: 10.5653/cerm.2023.06478. Epub 2024 Jun 10.
9
Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview.微创和非侵入性胚胎植入前基因检测的进展概述
J Clin Med. 2024 Apr 9;13(8):2160. doi: 10.3390/jcm13082160.
10
Good practice recommendations on add-ons in reproductive medicine†.生殖医学附加治疗的良好实践建议†。
Hum Reprod. 2023 Nov 2;38(11):2062-2104. doi: 10.1093/humrep/dead184.