Abstract：
Preimplantation genetic testing for monogenic diseases (PGT-M) can effectively interrupt the transmission of genetic diseases from parents to the offspring before pregnancy. In China, there are over ten million individuals afflicted with monogenic disorders. This literature review summarizes the development of PGT-M in China for the past 24 years, covering the general steps such as the indications and contraindications, genetic and reproductive counselling, biopsy methods, detecting techniques and strategies during PGT-M application in China. The ethical considerations of PGT-M are also be emphasized, including sexual selection, transferring for mosaic embryos, the three-parent baby, and the different opinions for serious adult-onset conditions. Some key policies of the Chinese government for the application of PGT-M are also considered. Methods for regulation of this technique, as well as specific management to increase the accuracy and reliability of PGT-M, are regarded as priority issues in China. The third-generation sequencing and variants testing from RNA level, and non-invasive preimplantation genetic testing using blastocoel fluid and free DNA particles within spent blastocyst medium might be potential techniques and strategies for PGT-M in future.
摘要：
单基因疾病的植入前基因检测（PGT-M）可以有效地阻断遗传疾病在怀孕前从父母到后代的传播。在中国,有超过一千万人患有单基因疾病。本文综述了PGT-M在中国近24年的发展,涵盖一般步骤，如适应症和禁忌症，遗传和生殖咨询，活检方法,PGT-M在中国应用过程中的检测技术和策略。PGT-M的伦理考虑也被强调，包括性选择,移植马赛克胚胎，三个父母的婴儿,以及对严重成人发病情况的不同意见。还考虑了中国政府应用PGT-M的一些关键政策。这种技术的调节方法，以及特定的管理，以提高PGT-M的准确性和可靠性，在中国被视为优先问题。第三代测序和从RNA水平的变异测试，使用胚泡液和游离DNA颗粒的非侵入性植入前基因检测可能是PGT-M未来的潜在技术和策略。
