• 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

在植入前基因诊断/筛查之前,我们应该关注什么?

What should we focus on before preimplantation genetic diagnosis/screening?

作者信息

Zheng Zhong, Zhao Xiaoming, Xu Bing, Yao Ning

机构信息

Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.

出版信息

Arch Med Sci. 2018 Aug;14(5):1119-1124. doi: 10.5114/aoms.2018.72790. Epub 2018 Jan 16.

DOI:10.5114/aoms.2018.72790
PMID:30154896
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6111346/
Abstract

INTRODUCTION

Preimplantation genetic diagnosis/screening (PGD/PGS) can effectively detect chromosomal abnormalities in an embryo but only if an embryo is available. However, not all couples can obtain an embryo that is available for testing. The purpose of this study was to identify factors which might affect the formation of PGD/PGS embryos to predict the possibility of obtaining embryos that could be detected.

MATERIAL AND METHODS

In a retrospective study, we included all couples who underwent PGD/PGS at our center from January 2015 to December 2016. We compared these patients according to the non-blastocyst group and the blastocyst group.

RESULTS

There were 302 couples who had blastocysts in their first PGD/PGS cycle. Fifty-seven couples had no blastocysts in their PGD/PGS cycles: 43 couples had no blastocysts in one cycle; 10 in two cycles; 4 in three cycles. The non-blastocyst group was older than the blastocyst group (32.37 vs. 30.69, = 0.048). Anti-mullerian hormone (AMH, ng/ml) in the non-blastocyst group was significantly lower than in the blastocyst group (4.80 ±3.67 vs. 3.07 ±2.30, = 0.00). Women whose chromosome were aneuploid (47, XXX or 45, X) had a similar AMH level compared with others, but the number of retrieved oocytes was much lower; the normal karyotype was 14.25 and aneuploidy was 5.40 ( = 0.01) in women < 30 years old. There was the same condition in women aged 30-38 years (14.60 vs. 3.44, < 0.001). Male's different chromosome karyotype had no influence on double pronuclear number or the rate of blastocyst formation. Presence of endometriosis, polycystic ovary syndrome and tubal factor showed no difference between the blastocyst and non-blastocyst group. Nor did oligospermia and asthenospermia.

CONCLUSIONS

Elderly women, those with lower AMH and women with 47, XXX or 45, X have fewer ova, leading to the possibility of no blastocyst. These couples should be fully informed and weigh the advantages and disadvantages before undergoing PGD/PGS.

摘要

引言

植入前基因诊断/筛查(PGD/PGS)能够有效检测胚胎中的染色体异常,但前提是有胚胎可供检测。然而,并非所有夫妇都能获得可用于检测的胚胎。本研究的目的是确定可能影响PGD/PGS胚胎形成的因素,以预测获得可检测胚胎的可能性。

材料与方法

在一项回顾性研究中,我们纳入了2015年1月至2016年12月在本中心接受PGD/PGS的所有夫妇。我们根据非囊胚组和囊胚组对这些患者进行了比较。

结果

在其首个PGD/PGS周期中有囊胚的夫妇有302对。57对夫妇在其PGD/PGS周期中没有囊胚:43对夫妇在一个周期中没有囊胚;10对在两个周期中没有囊胚;4对在三个周期中没有囊胚。非囊胚组的年龄大于囊胚组(32.37对30.69,P = 0.048)。非囊胚组的抗苗勒管激素(AMH,ng/ml)显著低于囊胚组(4.80±3.67对3.07±2.30,P = 0.00)。染色体非整倍体(47,XXX或45,X)的女性与其他女性的AMH水平相似,但回收的卵母细胞数量要低得多;年龄<30岁的女性中,正常核型为14.25,非整倍体为5.40(P = 0.01)。30 - 38岁的女性也有同样的情况(14.60对3.44,P < 0.001)。男性不同的染色体核型对双原核数量或囊胚形成率没有影响。子宫内膜异位症、多囊卵巢综合征和输卵管因素在囊胚组和非囊胚组之间没有差异。少精子症和弱精子症也没有差异。

结论

年龄较大的女性、AMH水平较低的女性以及染色体为47,XXX或45,X的女性卵子较少,导致没有囊胚的可能性增加。这些夫妇在接受PGD/PGS之前应充分了解情况并权衡利弊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c4/6111346/b98105c9fb8d/AMS-14-31510-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c4/6111346/9be7080fca1c/AMS-14-31510-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c4/6111346/b98105c9fb8d/AMS-14-31510-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c4/6111346/9be7080fca1c/AMS-14-31510-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c4/6111346/b98105c9fb8d/AMS-14-31510-g002.jpg

相似文献

1
What should we focus on before preimplantation genetic diagnosis/screening?在植入前基因诊断/筛查之前,我们应该关注什么?
Arch Med Sci. 2018 Aug;14(5):1119-1124. doi: 10.5114/aoms.2018.72790. Epub 2018 Jan 16.
2
Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: a successful clinical approach.通过单个胚胎活检可检测出遗传疾病和非整倍体:一种成功的临床方法。
Hum Reprod. 2017 Aug 1;32(8):1770-1777. doi: 10.1093/humrep/dex215.
3
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.
4
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.
5
Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts.标准囊胚形态、整倍体与着床的相关性:两个中心涉及 956 枚筛选囊胚的观察性研究。
Hum Reprod. 2014 Jun;29(6):1173-81. doi: 10.1093/humrep/deu033. Epub 2014 Feb 26.
6
Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers.基于单核苷酸多态性微阵列的胚胎植入前遗传学诊断可能会改善易位携带者的临床结局。
Hum Reprod. 2013 Sep;28(9):2581-92. doi: 10.1093/humrep/det271. Epub 2013 Jul 11.
7
Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray.采用aCGH/SNP微阵列进行24条染色体分析,对相互易位和罗伯逊易位植入前基因诊断病例中的染色体数目异常进行初步分析。
J Assist Reprod Genet. 2018 Jan;35(1):177-186. doi: 10.1007/s10815-017-1045-9. Epub 2017 Sep 18.
8
The number and rate of euploid blastocysts in women undergoing IVF/ICSI cycles are strongly dependent on ovarian reserve and female age.在接受 IVF/ICSI 周期的女性中,整倍体囊胚的数量和比率强烈依赖于卵巢储备和女性年龄。
Hum Reprod. 2022 Sep 30;37(10):2392-2401. doi: 10.1093/humrep/deac191.
9
Correlation between aneuploidy, standard morphology evaluation and morphokinetic development in 1730 biopsied blastocysts: a consecutive case series study.1730个活检囊胚的非整倍体、标准形态学评估与胚胎发育动力学之间的相关性:一项连续性病例系列研究
Hum Reprod. 2016 Oct;31(10):2245-54. doi: 10.1093/humrep/dew183. Epub 2016 Sep 2.
10
Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles.下一代测序技术在临床植入前基因筛查周期中对囊胚进行全面非整倍体筛查的应用。
Hum Reprod. 2014 Dec;29(12):2802-13. doi: 10.1093/humrep/deu277. Epub 2014 Oct 21.

引用本文的文献

1
Antimüllerian hormone (AMH) and age as predictors of preimplantation genetic testing for aneuploidies (PGT-A) cycle outcomes and blastocyst quality on day 5 in women undergoing in vitro fertilization (IVF).抗苗勒管激素(AMH)和年龄作为预测体外受精(IVF)女性胚胎植入前遗传学检测(PGT-A)周期结局和第 5 天囊胚质量的指标。
J Assist Reprod Genet. 2023 Jun;40(6):1467-1477. doi: 10.1007/s10815-023-02805-z. Epub 2023 May 5.
2
Clinical Outcome, Socioeconomic Status and Psychological Constrains of Patients Undergoing Preimplantation Genetic Testing (PGT) in Northern Greece.希腊北部接受胚胎植入前遗传学检测(PGT)患者的临床结局、社会经济地位和心理限制。
Medicina (Kaunas). 2022 Oct 20;58(10):1493. doi: 10.3390/medicina58101493.
3

本文引用的文献

1
Age as A Predictor of Embryo Quality Regardless of The Quantitative Ovarian Response.年龄作为胚胎质量的预测指标,与卵巢定量反应无关。
Int J Fertil Steril. 2017 Apr-Jun;11(1):40-46. doi: 10.22074/ijfs.2016.4579. Epub 2016 Nov 11.
2
The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality.卵丘颗粒细胞的线粒体DNA含量与胚胎质量相关。
Hum Reprod. 2017 Mar 1;32(3):607-614. doi: 10.1093/humrep/dew341.
3
Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development.
The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa.
X 连锁型视网膜炎色素变性的胚胎植入前遗传学诊断的临床应用。
J Assist Reprod Genet. 2019 May;36(5):989-994. doi: 10.1007/s10815-019-01434-9. Epub 2019 Mar 19.
着床前发育过程中针对复杂有丝分裂起源非整倍体选择的证据。
PLoS Genet. 2015 Oct 22;11(10):e1005601. doi: 10.1371/journal.pgen.1005601. eCollection 2015 Oct.
4
Management of infertility in women over 40.40岁以上女性不孕症的管理
Maturitas. 2014 May;78(1):17-21. doi: 10.1016/j.maturitas.2014.02.014. Epub 2014 Mar 5.
5
[Clinical characteristics and preimplantation genetic diagnosis for male Robertsonian translocations].[男性罗伯逊易位的临床特征及植入前遗传学诊断]
Beijing Da Xue Xue Bao Yi Xue Ban. 2012 Aug 18;44(4):544-6.
6
Decreased fertility in poor responder women is not related to oocyte morphological status.在卵巢低反应患者中,生育力下降与卵母细胞形态学状态无关。
Arch Med Sci. 2011 Apr;7(2):315-20. doi: 10.5114/aoms.2011.22084. Epub 2011 May 17.
7
Do female translocations influence the ovarian response pattern to controlled ovarian stimulation in preimplantation genetic diagnosis?女性易位是否会影响胚胎植入前遗传学诊断中控制性卵巢刺激的卵巢反应模式?
Hum Reprod. 2011 May;26(5):1232-40. doi: 10.1093/humrep/der032. Epub 2011 Feb 23.
8
PGD for fragile X syndrome: ovarian function is the main determinant of success.PGD 用于脆性 X 综合征:卵巢功能是成功的主要决定因素。
Hum Reprod. 2010 Oct;25(10):2629-36. doi: 10.1093/humrep/deq203. Epub 2010 Aug 16.
9
A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis.罗伯逊易位携带者的生殖咨询建议:10年胚胎植入前遗传学诊断经验
Hum Reprod. 2009 Sep;24(9):2365-71. doi: 10.1093/humrep/dep201. Epub 2009 Jun 3.
10
ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007.欧洲人类生殖与胚胎学会(ESHRE)胚胎植入前基因诊断(PGD)联盟数据收集IX:2006年1月至12月周期及随访至2007年10月的妊娠情况
Hum Reprod. 2009 Aug;24(8):1786-810. doi: 10.1093/humrep/dep059. Epub 2009 Apr 29.