x连锁脉络膜疾病植入前基因检测后健康男孩的活产

Journal of molecular and genetic medicine : an international journal of biomedical research Pub Date : 2020-01-01 DOI:10.37421/jmgm.2020.14.450

Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, A. M, Zafeiratis O, Najdecki R, Athanasiadis A, Papanikolaou Eg

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引用次数: 0

摘要

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。

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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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Journal of molecular and genetic medicine : an international journal of biomedical research

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