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在遗传代谢疾病中进行植入前遗传检测? 最新技术和当前的挑战
Ana Miguel Capela1, Ana Cunha2, Ana Maria Fortuna1,3
1Unidade de Genética Médica, Centro de Genética Médica Jacinto Magalhães - Centro Hospitalar Universitário de Santo António, Portugal.
Endocrine, metabolic & immune disorders drug targets
|December 19, 2023
概括
植入前遗传检测 (PGT) 有助于预防遗传代谢障碍 (IEM) 的传播. 虽然PGT正在扩大核DNA条件,但对于线粒体DNA疾病,它仍然有限.
科学领域:
- 医学遗传学 医学遗传学
- 生殖医学 生殖医学
- 生物化学 生化学
背景情况:
- 代谢的先天性错误 (IEMs) 是酶活性的遗传性疾病,通常以自体逆向或线粒体模式遗传.
- 受影响儿童的父母可能不知道他们的携带者身份,并面临复发风险.
- 植入前遗传检测 (PGT) 是一种在子宫移植前对胚胎进行遗传条件查的方法.
研究的目的:
- 审查在葡萄牙批准用于PGT的疾病.
- 检查IEM中辅助生殖技术 (ART) 的国际实践.
- 为患者和临床医生提供关于IEMs的生殖选择的信息.
主要方法:
- 葡萄牙国家医疗辅助生殖委员会 (CNPMA) 批准的PGT疾病的审查.
- 在IEM中评估PGT的资格标准.
- 对IEMs的ART实践进行国际审查.
主要成果:
- 截至2022年7月,葡萄牙已批准23种具有核DNA变异的IEM用于PGT.
- 导致严重痛苦或过早死亡的疾病可以通过专家委员会评估获得批准.
- 葡萄牙没有用于线粒体DNA疾病的ART;国际中心为特定变体和线粒体捐赠提供PGT.
结论:
- PGT有效地降低了像IEMs这样的遗传疾病的传播风险.
- 葡萄牙的PGT批准的IEM清单越来越多,但可用性和成功率可能是限制.
- 基因咨询对于向患者提供关于生殖选择和IEMs的限制的信息至关重要.
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