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辅助生殖技术在生育治疗与疾病预防的交汇点。

Assisted reproductive technologies at the nexus of fertility treatment and disease prevention.

机构信息

Biosciences Institute, Newcastle University, Newcastle upon Tyne NE1 4EP, UK.

Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4EP, UK.

出版信息

Science. 2023 Apr 14;380(6641):164-167. doi: 10.1126/science.adh0073. Epub 2023 Apr 13.

DOI:10.1126/science.adh0073
PMID:37053308
Abstract

Assisted reproductive technology (ART) refers to processing gametes in vitro and usually involves in vitro fertilization. Originally developed for the treatment of infertility, culture of human embryos in vitro also provides an opportunity to screen embryos for inherited genetic disorders of the nuclear and mitochondrial genomes. Progress in identifying causative genetic variants has massively increased the scope of preimplantation genetic testing in preventing genetic disorders. However, because ART procedures are not without risk of adverse maternal and child outcomes, careful consideration of the balance of risks and benefits is warranted. Further research on early human development will help to minimize risks while maximizing the benefits of ART.

摘要

辅助生殖技术(ART)是指对配子进行体外处理,通常涉及体外受精。该技术最初是为治疗不孕而开发的,体外培养人类胚胎也为筛选核基因组和线粒体基因组遗传疾病的胚胎提供了机会。在鉴定致病遗传变异方面的进展极大地扩大了着床前遗传检测预防遗传疾病的范围。然而,由于 ART 程序并非没有不良母婴结局的风险,因此需要仔细考虑风险和收益的平衡。对人类早期发育的进一步研究将有助于在最大限度地提高 ART 效益的同时,将风险降到最低。

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