Bredbacka Peter, Capalbo Antonio, Kananen Kirsi, Picchetta Ludovica, Tomás Candido
Ovumia Tampere, Tampere, Finland.
Juno Genetics, Reproductive Genetics, Rome, Italy.
Hum Reprod. 2023 Sep 5;38(9):1700-1704. doi: 10.1093/humrep/dead151.
During IVF treatments, normal fertilization is generally evidenced by the appearance of two pronuclei, one arising from the oocyte and the other from the male gamete. Embryos derived from zygotes with a pronuclei number other than two are assumed to possess a ploidy abnormality and their transfer is usually avoided owing to increased risk of implantation failure, miscarriage, and molar pregnancies. Nonetheless, the inclusion of genotyping data in preimplantation genetic testing has revealed that a normal diploid configuration is possible in embryos deriving from zygotes with an abnormal pronuclei number such as tripronuclear and one pronucleus. Here, we present a one-of-a-kind transfer of a tetrapronuclear-derived embryo that was discovered to be diploid and negative for other whole chromosome or segmental aneuploidies during preimplantation genetic testing using a targeted next-generation sequencing approach. The transfer resulted in the live birth of a healthy infant who is now 4 years old and has no apparent health or developmental impairments.
在体外受精治疗过程中，正常受精通常表现为出现两个原核，一个来自卵母细胞，另一个来自雄配子。由具有非两个原核的合子发育而来的胚胎被认为存在倍性异常，由于植入失败、流产和葡萄胎妊娠的风险增加，通常避免移植此类胚胎。尽管如此，植入前基因检测中基因分型数据的纳入表明，来自具有异常原核数目的合子（如三原核和单原核）的胚胎有可能具有正常的二倍体构型。在此，我们展示了一例独一无二的四原核胚胎移植案例，该胚胎在使用靶向新一代测序方法进行植入前基因检测时被发现为二倍体，且无其他全染色体或节段性非整倍体。此次移植产下了一名健康婴儿，该婴儿现已4岁，没有明显的健康或发育障碍。
