胚胎植入前遗传学诊断的新进展

Progress of Preimplantation Genetic Diagnosis

胚胎植入前的遗传学检测包括植入前遗传学诊断(preimplantation genetic diagnosis,PGD)和植入前遗传学筛查(preimplantation genetic screening,PGS)。PGD已在临床辅助生殖中应用20余年,其主要适应证为单基因疾病和遗传性染色体异常。PGS则是应用与PGD相同的技术,对植入前的胚胎进行染色体非整倍性的检测,选择最佳的胚胎予以移植,其适用于高龄(>35岁)、既往非整倍体妊娠、反复体外受精(IVF)失败、反复流产、严重的男性不育等因素导致的不孕不育。PGD有关的分析技术正日新月异地发展,微阵列比较基因组杂交技术、单核苷酸多态性微阵列技术等微阵列技术以及新一代测序技术已用于临床,卵裂球全基因组测序也即将成为可能。综述该领域的进展以及PGD/PGS的争议问题。

The genetic tests of the preimplantation human embryo mainly include： preimplantation genetic diagnosis （PGD） and preimplantation genetic screening （PGS）. PGD based on PCR and FISH has been used to detect the single gene disorders and inherited chromosome abnormalities for the last 20 years. PGS with the same technology in PGD was used to detect aneuploidy chromosomes in embryos, to select those embryos with normal chromosomes for IVF transfer. It has been applied in those patients of advanced age,repeated implantation failure, repeated miscarriages and severe male factor infertility. There are dramatic changes in the PGD methodology. Both array-comparative genomic hybridization and single nucleotide polymorphism arrays have been introduced into clinical practice for PGD and PGS. In this review,we introduced some new methods and controversies in the field of PGD/PGS.