嵌合体胚胎:移植还是丢弃

Mosaic embryo:transplant or discard

在体外受精(IVF)治疗中,有很大比例的种植前胚胎包含两种甚至更多的细胞遗传学不同的细胞系,这种现象称为嵌合体。尽管卵裂期和囊胚期的嵌合现象已经发现二十多年了,但是嵌合体的准确发生率和对胚胎发育结局的影响仍不明确。随着遗传学技术的发展,例如高分辨二代测序(NGS),对嵌合体的检测更加敏感。研究发现嵌合体胚胎种植率明显低于染色体正常的胚胎,但是部分嵌合体胚胎也可以正常活产。如何处置嵌合体胚胎以及移植嵌合体胚胎后的随访变得非常关键。

A large proportion of preimplantation embryos were produced during IVF,which contain two or even more cytogenetically different cell lines,and called mosaicism.Although the mosaicism of cleavage and blastocyst have been discovered for more than two decades,the exact incidence of mosaicism and its effect on embryonic development outcome remain unclear.With the advancing of cytogenetic technology,for example high-resolution next-generation sequencing（NGS）,detection of mosaicism becomes more sensitive.Recent research found that mosaic embryos had lower implantation rate than embryos with normal chromosomes.However,some mosaic embryos can lead to live birth.How to deal with mosaic embryos and follow-up after mosaic embryo transfer is critical.