Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, A. M, Zafeiratis O, Najdecki R, Athanasiadis A, Papanikolaou Eg
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Live Birth of a Healthy Boy after Preimplantation Genetic Testing for X-Linked Choroideremia Disorder
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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