极体活检在胚胎植入前遗传学检测中的临床应用价值

Clinical application value of polar body biopsy in preimplantation genetic testing

极体是卵母细胞减数分裂的副产物,含有和卵细胞相对应的遗传物质,对极体进行遗传学检测可以推测出相应卵细胞的染色体和基因状态。极体活检具有对胚胎损伤小、伦理上易被接受等特点,是一种安全、有效的胚胎植入前遗传学检测(preimplantation genetic testing,PGT)取材方法。极体分析主要用于母源单基因遗传病、染色体非整倍体和染色体结构重排的PGT,在女方新发变异、家系成员缺失或生殖腺嵌合的单基因病检测、线粒体遗传病的阻断和高龄女性的染色体非整倍体筛查方面具有优势。与囊胚期检测相比,极体检测能够避免囊胚培养失败造成的胚胎浪费,提高胚胎利用率,可能对卵巢功能不全的女性更有利。此外,极体检测将检测时间前移,能够实现新鲜胚胎移植。本文对极体活检在PGT中的研究进行整理和归纳,旨在揭示其临床应用价值。

Polar bodies are the byproducts of oocyte meiosis,which contain the corresponding genetic material with the egg cell.Genetic testing of the polar bodies can infer the chromosomal and genetic state of the corresponding egg cell.Polar body biopsy is a safe and effective method for preimplantation genetic testing(PGT),which has the characteristics of less damage to the embryo and easy to be accepted ethically.Polar body analysis is mainly used for PGT of maternal monogenic diseases,chromosomal aneuploidy and structure rearrangement,with significant advantages especially for the females with de novo mutations,absent of family members,and gonadal mosaic mutation,preventing the transmission of mitochondrial diseases,and screening chromosomal aneuploidy with advanced age.In addition,compared with blastocyst detection,preimplantation detection in the polar body stage avoids embryo waste caused by failure of blastocyst culturing,improves the utilization of embryos.This characteristic may take more advantages for females with ovarian insufficiency.Moreover,polar body biopsy moves the detection time forward and makes fresh embryo transfer available.This paper summarized the application of polar body biopsy in PGT aiming to reveal its clinical value.