Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

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


Tatsi P*, Papoulidis I, Timotheou E, Chartomatsidou T, Alexiou M, Zafeiratis O, Najdecki R, Athanasiadis A and Papanikolaou EG

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. 


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