关键词: 遗传性肿瘤, 胚胎植入前遗传学检测, 应用进展

Abstract:

Hereditary tumors are essentially diseases caused by genetic material defects, and most of them exhibit Mendelian autosomal dominant inheritance. It not only endangers the health of patients, but also poses a serious threat to future generations. Preimplantation genetic testing (PGT) combined with in vitro fertilization and embryo transfer (IVF-ET) technology can detect the chromosomes or specific genes of gametes or embryos, and finally select embryos without pathogenic mutations of hereditary tumor susceptibility genes to be implanted into the uterus, thereby blocking the offspring transmission of hereditary tumors and reducing their incidence. This article briefly introduced the common hereditary tumors and their characteristics at present, summarized the application of PGT technology in reproductive intervention of common hereditary tumors and rare hereditary tumors such as familial adenomatous polyposis, hereditary breast cancer/ovarian cancer syndrome, discussed the development and ethical issue of PGT technology for hereditary tumors, and looked forward to its future development direction.

Key words: Hereditary tumors, Preimplantation genetic testing, Application progress