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.