Preimplantation genetic testing is an important part in assisted reproductive technology, which can block the intergenerational inheritance of single gene or chromosomal diseases. Preimplantation genetic testing for polygenic disease risk (PGT-P) is the latest development in the field. It is known that polygenic diseases usually have the characteristics of high incidence, late onset, affecting the quality of life and mental health of patients. On the basis of the development of artificial intelligence and genetic detection technology, PGT-P can analyze genetic material, calculate polygenic risk score turning into incidence probability. Embryos with relatively low incidence probability can be screened for transfer, so as to reduce the possibility of offspring suffering from the disease in the future, which has significant clinical and social significance. At present, PGT-P has been applied clinically and made phased progress at home and abroad. At the same time, as a developing technology, PGT-P still has some technical defects, unstable results, environmental influences and racial differences cannot be ruled out. From the perspective of ethics, if the screening indications are not strictly regulated, it is likely to cause new social problems. In this paper, we review the technical composition and recent progress of PGT-P, and put forward the prospect of its future development, especially how to establish a complete and suitable screening model for Chinese population.
胚胎植入前遗传学检测是辅助生殖过程中的重要环节，可以阻断单基因或染色体疾病的代际间遗传。其中，多基因疾病胚胎植入前遗传学检测（PGT-P）是该领域的最新进展。已知多基因疾病通常存在发病率高、发病时间迟、影响患者生存质量与心理健康等特点。PGT-P在人工智能和遗传检测技术发展的基础上，通过检测遗传物质，计算多基因风险评分，再将其转化为发病概率，可以筛选得到多基因疾病发病概率相对较低的胚胎进行移植，以期降低子代未来患该疾病的可能，具有显著的临床和社会意义。目前，PGT-P已在国内外都进行了阶段性的开展并取得了成功的临床实践。与此同时，PGT-P作为一项正在发展的技术仍存在结果不稳定，无法排除环境因素、种族差异影响等技术缺陷；在伦理角度，若不严加规范PGT-P的筛选指征则容易产生新的社会问题。本文主要综述了目前多基因疾病胚胎植入前遗传学检测的技术组成和最新进展，并对其未来的发展，尤其是如何建立完整且适用于我国人群的筛查模型提出了展望。.
Keywords: Polygenic disorders; Polygenic risk score; Preimplantation genetic testing; Review; Statistical analysis.