Live Birth of a Healthy Boy after Preimplantation Genetic Testing for X-Linked Choroideremia Disorder

Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, A. M, Zafeiratis O, Najdecki R, Athanasiadis A, Papanikolaou Eg
{"title":"Live Birth of a Healthy Boy after Preimplantation Genetic Testing for X-Linked Choroideremia Disorder","authors":"Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, A. M, Zafeiratis O, Najdecki R, Athanasiadis A, Papanikolaou Eg","doi":"10.37421/jmgm.2020.14.450","DOIUrl":null,"url":null,"abstract":"Preimplantation Genetic Testing (PGT) is a special technique in Assisted Reproduction Field that is applied to avoid a variety of hereditary disorders. This case report presents the first experience with rare X-linked Choroideremia disease (CHM), which leads to total blindness in male members of the family. To achieve a live birth in this case a total of 3 IVF procedures and 3 PGT cycles were performed. The data in our case offer the chance to couples suffering from rare genetic ophthalmo-neurological diseases to have healthy offspring.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-5"},"PeriodicalIF":0.0000,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of molecular and genetic medicine : an international journal of biomedical research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.37421/jmgm.2020.14.450","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Preimplantation Genetic Testing (PGT) is a special technique in Assisted Reproduction Field that is applied to avoid a variety of hereditary disorders. This case report presents the first experience with rare X-linked Choroideremia disease (CHM), which leads to total blindness in male members of the family. To achieve a live birth in this case a total of 3 IVF procedures and 3 PGT cycles were performed. The data in our case offer the chance to couples suffering from rare genetic ophthalmo-neurological diseases to have healthy offspring.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
x连锁脉络膜疾病植入前基因检测后健康男孩的活产
胚胎植入前基因检测(PGT)是辅助生殖领域的一项特殊技术,用于避免各种遗传疾病。本病例报告首次出现罕见的x连锁脉络膜血症(CHM),导致家族男性成员完全失明。为了在这种情况下实现活产,总共进行了3次体外受精程序和3次PGT周期。我们案例中的数据为患有罕见遗传性眼神经疾病的夫妇提供了拥有健康后代的机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Cell Systems Biology of Translation Factors and Proteasome-Targeted Protein Complexes Associated with AGC Kinase Sch 9 Molecular Linking of HIPEC (Hyperthermic Intraperitoneal Chemotherapy) and Tregs (Regulatory T- cells) in Advanced Epithelial Ovarian Cancer - A Review Editorial Note for Medicine Aspects Editorial Note for Genetic Aspects Disseminated Condensing Osteopathy
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1