• 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

一项病例对照研究,确定印度东部地区1000对有复发性流产病史的夫妇队列中染色体异常和变异的频率及谱型。

A Case-Control Study Identifying the Frequency and Spectrum of Chromosomal Anomalies and Variants in a Cohort of 1000 Couples with a Known History of Recurrent Pregnancy Loss in the Eastern Region of India.

作者信息

Chakraborty Abhik, Kar Sujata, Mohapatra Purna Chandra, Banerjee Birendranath

机构信息

KIIT, School of Biotechnology, KIIT University, Bhubaneswar, Odisha, India.

Kar Clinic and Hospitals Pvt Ltd, Bhubaneswar, Odisha, India.

出版信息

J Hum Reprod Sci. 2021 Oct-Dec;14(4):422-430. doi: 10.4103/jhrs.jhrs_68_21. Epub 2021 Dec 31.

DOI:10.4103/jhrs.jhrs_68_21
PMID:35197689
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8812384/
Abstract

BACKGROUND

Recurrent pregnancy loss (RPL) is a common occurrence that affects up to 15% of couples in their reproductive years. In both males and females with RPL and infertility, chromosomal abnormalities play a significant impact.

AIM

The study was designed to examine the involvement of chromosomal anomalies and the frequency of certain chromosomal variants persistent among couples experiencing RPL.

SETTING AND DESIGN

This case-control study was conducted on 1000 couples from January 2015 to September 2020 in the state of Odisha, India, strictly adhering to principles of Helsinki Declaration (1975). The study was performed at the School of Biotechnology, KIIT University in collaboration with inDNA Life Sciences Private Limited.

MATERIALS AND METHODS

A cohort of 1148 individuals with a history of RPL were selected for the study and they were screened with respect to fertile controls for the presence of any chromosomal anomaly using G-banding, nucleolar organizing region (NOR)-banding and fluorescence hybridisation wherever necessary.

STATISTICAL ANALYSIS

The connection between distinct polymorphic variations and the occurrence of RPL was assessed using Fisher's exact test. Significant was defined as a ≤ 0.005.

RESULTS

One hundred and thirty-four individuals were found to harbor chromosomal anomalies. This study elucidates that along with balanced chromosomal translocations, the involvement of polymorphic variants also plays a significant role in cases of RPL.

CONCLUSION

The cumulative occurrence of chromosomal anomalies and variants across our cohort of 1148 individuals indicates that the chromosomal assessment of all couples experiencing RPL must be performed by all the clinicians. This study aids us in identifying chromosomal polymorphisms as major players of RPL in addition to novel chromosomal translocations.

摘要

背景

复发性流产(RPL)是一种常见情况,影响高达15%处于生育年龄的夫妇。在患有RPL和不孕症的男性和女性中,染色体异常都有重大影响。

目的

本研究旨在检查染色体异常的参与情况以及某些染色体变异在经历RPL的夫妇中持续存在的频率。

设置与设计

本病例对照研究于2015年1月至2020年9月在印度奥里萨邦对1000对夫妇进行,严格遵循《赫尔辛基宣言》(1975年)的原则。该研究在KIIT大学生物技术学院与inDNA生命科学私人有限公司合作进行。

材料与方法

选择1148名有RPL病史的个体组成队列进行研究,并在必要时使用G显带、核仁组织区(NOR)显带和荧光杂交对其进行筛选,以检测是否存在任何染色体异常,并与生育对照进行比较。

统计分析

使用Fisher精确检验评估不同多态性变异与RPL发生之间的关联。显著性定义为P≤0.005。

结果

发现134名个体存在染色体异常。本研究表明,除了平衡染色体易位外,多态性变异在RPL病例中也起着重要作用。

结论

在我们1148名个体的队列中,染色体异常和变异的累积发生率表明,所有临床医生都必须对所有经历RPL的夫妇进行染色体评估。本研究有助于我们确定染色体多态性是RPL的主要因素,此外还有新的染色体易位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/b643ec513ddd/JHRS-14-422-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/5b5cee1f46d7/JHRS-14-422-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/102a86ce5e1f/JHRS-14-422-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/e307ca154923/JHRS-14-422-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/0fada61f1f1f/JHRS-14-422-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/b643ec513ddd/JHRS-14-422-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/5b5cee1f46d7/JHRS-14-422-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/102a86ce5e1f/JHRS-14-422-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/e307ca154923/JHRS-14-422-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/0fada61f1f1f/JHRS-14-422-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/8812384/b643ec513ddd/JHRS-14-422-g005.jpg

相似文献

1
A Case-Control Study Identifying the Frequency and Spectrum of Chromosomal Anomalies and Variants in a Cohort of 1000 Couples with a Known History of Recurrent Pregnancy Loss in the Eastern Region of India.一项病例对照研究,确定印度东部地区1000对有复发性流产病史的夫妇队列中染色体异常和变异的频率及谱型。
J Hum Reprod Sci. 2021 Oct-Dec;14(4):422-430. doi: 10.4103/jhrs.jhrs_68_21. Epub 2021 Dec 31.
2
A Study on Balanced Chromosomal Translocations in Couples with Recurrent Pregnancy Loss.反复流产夫妇平衡染色体易位的研究
J Hum Reprod Sci. 2018 Oct-Dec;11(4):337-342. doi: 10.4103/jhrs.JHRS_132_17.
3
Acrocentric Chromosome Polymorphic Variants on Chinese Female Have Possible Association with Unexplained Recurrent Pregnancy Loss.中国女性的染色体臂间倒位多态性变异可能与不明原因复发性妊娠丢失有关。
Reprod Sci. 2021 Feb;28(2):575-584. doi: 10.1007/s43032-020-00332-1. Epub 2020 Oct 6.
4
Prevalence and Treatment Choices for Couples with Recurrent Pregnancy Loss Due to Structural Chromosomal Anomalies.因结构性染色体异常导致反复流产的夫妇的患病率及治疗选择
J Obstet Gynaecol Can. 2018 Jun;40(6):655-662. doi: 10.1016/j.jogc.2017.09.024. Epub 2017 Dec 21.
5
Cytogenetic Analysis of 570 Couples with Recurrent Pregnancy Loss: Reporting 11 Years of Experience.570对复发性流产夫妇的细胞遗传学分析:11年经验报告
J Hum Reprod Sci. 2020 Jul-Sep;13(3):216-220. doi: 10.4103/jhrs.JHRS_138_19. Epub 2020 Oct 27.
6
Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities.复发性流产且染色体平衡异常夫妇的生殖结局
J Obstet Gynaecol Res. 2013 Jan;39(1):113-20. doi: 10.1111/j.1447-0756.2012.01905.x. Epub 2012 Jun 4.
7
Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.反复流产夫妇的染色体异常:一项印度回顾性研究。
Indian J Hum Genet. 2013 Oct;19(4):415-22. doi: 10.4103/0971-6866.124369.
8
Risk Factors Associated with Recurrent Pregnancy Loss and Outcome of Pre-Implantation Genetic Screening of Affected Couples.复发性流产的相关危险因素及受累夫妇植入前基因筛查的结果
Int J Fertil Steril. 2021 Oct;15(4):269-274. doi: 10.22074/IJFS.2021.137626.1027. Epub 2021 Oct 16.
9
Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART).原发性和继发性不孕夫妇的染色体异常:辅助生殖技术(ART)的遗传咨询
J Reprod Infertil. 2020 Oct-Dec;21(4):269-274. doi: 10.18502/jri.v21i4.4331.
10
De novo Balanced Robertsonian Translocation rob(22;22)(q10;q10) in a Woman with Recurrent Pregnancy Loss: A Rare Case.一名复发性流产女性的新发平衡罗伯逊易位rob(22;22)(q10;q10):罕见病例
J Reprod Infertil. 2018 Jan-Mar;19(1):61-66.

引用本文的文献

1
Cytogenetic analysis of 3488 patients with recurrent pregnancy loss: An experience of two decades from a tertiary care center in South India.3488例复发性流产患者的细胞遗传学分析:来自印度南部一家三级医疗中心的二十年经验。
Med J Armed Forces India. 2024 Nov-Dec;80(6):675-686. doi: 10.1016/j.mjafi.2023.09.010. Epub 2023 Nov 11.
2
Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.使用带型细胞遗传学对人类染色体异态性进行分类的挑战:从有争议的指南到对通用评分系统的需求。
Hum Genome Var. 2024 Oct 24;11(1):38. doi: 10.1038/s41439-024-00295-8.
3

本文引用的文献

1
Cytogenetic Analysis of 570 Couples with Recurrent Pregnancy Loss: Reporting 11 Years of Experience.570对复发性流产夫妇的细胞遗传学分析:11年经验报告
J Hum Reprod Sci. 2020 Jul-Sep;13(3):216-220. doi: 10.4103/jhrs.JHRS_138_19. Epub 2020 Oct 27.
2
Clinical Manifestations of Chromosomal Anomalies and Polymorphic Variations in Patients Suffering from Reproductive Failure.生殖功能障碍患者染色体异常及多态性变异的临床表现
J Hum Reprod Sci. 2020 Jul-Sep;13(3):209-215. doi: 10.4103/jhrs.JHRS_46_19. Epub 2020 Oct 27.
3
Acrocentric Chromosome Polymorphic Variants on Chinese Female Have Possible Association with Unexplained Recurrent Pregnancy Loss.
Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.
对新生儿队列中的染色体异常进行评估:单中心对 14242 例患者的研究。
J Clin Lab Anal. 2024 Jan;38(1-2):e24997. doi: 10.1002/jcla.24997. Epub 2023 Dec 19.
4
Chromosomal polymorphisms have no negative effect on reproductive outcomes after IVF/ICSI-ET/FET.染色体多态性对 IVF/ICSI-ET/FET 后的生殖结局没有负面影响。
Sci Rep. 2022 Nov 9;12(1):19052. doi: 10.1038/s41598-022-20132-8.
中国女性的染色体臂间倒位多态性变异可能与不明原因复发性妊娠丢失有关。
Reprod Sci. 2021 Feb;28(2):575-584. doi: 10.1007/s43032-020-00332-1. Epub 2020 Oct 6.
4
Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss.反复自然流产患者的核型分析:原发性和继发性复发性妊娠丢失。
J Assist Reprod Genet. 2020 Mar;37(3):517-525. doi: 10.1007/s10815-020-01703-y. Epub 2020 Feb 3.
5
Potential genetic causes of miscarriage in euploid pregnancies: a systematic review.非整倍体妊娠中流产的潜在遗传原因:系统综述。
Hum Reprod Update. 2019 Jul 1;25(4):452-472. doi: 10.1093/humupd/dmz015.
6
The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.斯里兰卡人群中染色体易位的频率和频谱。
Biomed Res Int. 2019 Apr 2;2019:9797104. doi: 10.1155/2019/9797104. eCollection 2019.
7
A Study on Balanced Chromosomal Translocations in Couples with Recurrent Pregnancy Loss.反复流产夫妇平衡染色体易位的研究
J Hum Reprod Sci. 2018 Oct-Dec;11(4):337-342. doi: 10.4103/jhrs.JHRS_132_17.
8
Chromosomal Aberrations in Couples with Pregnancy Loss: A Retrospective Study.复发性流产夫妇的染色体畸变:一项回顾性研究。
J Hum Reprod Sci. 2018 Jul-Sep;11(3):247-253. doi: 10.4103/jhrs.JHRS_124_17.
9
Cytogenetic abnormalities in couples with a history of primary and secondary recurrent miscarriage: a Brazilian Multicentric Study.有原发性和继发性复发性流产病史夫妇的细胞遗传学异常:一项巴西多中心研究。
J Matern Fetal Neonatal Med. 2020 Feb;33(3):442-448. doi: 10.1080/14767058.2018.1494714. Epub 2018 Aug 13.
10
Novel rapid molecular diagnosis of fetal chromosomal abnormalities associated with recurrent pregnancy loss.与复发性流产相关的胎儿染色体异常的新型快速分子诊断
Acta Obstet Gynecol Scand. 2016 Dec;95(12):1433-1440. doi: 10.1111/aogs.13026.