分子与遗传医学

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

Abstract

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.