植入前遗传学诊断/筛查技术指征进展

Advances in indications of preimplantation genetic diagnosis/screening

植入前遗传学诊断/筛查(PGD/PGS)技术发展多年,其指征始终存在争议。PGD指征较为明确,单基因遗传病、染色体异常人群、人类白细胞抗原(HLA)配型为其适用人群。PGS的指征争议较多,主要面向反复流产、反复植入失败、高龄人群,目的是提高妊娠率及活产率。然而第一代PGS技术[PGS#1,卵裂球活检及荧光原位杂交(FISH)-PGS]技术未显示明显效果,甚至降低了妊娠率及活产率。第二代PGS技术(PGS2.0)增加了严重男性因素不育为指征,其核心为囊胚活检及全染色体筛查(CCS),对上述人群的临床效果较为明显,降低了流产风险并提高了成功率及活产率。PGS2.0已极大地改变了辅助生殖技术(ART)面貌,可能成为未来生殖中心对所有患者的一个常规项目。目前仍然需要多中心前瞻性随机病例对照研究重新评估PGS。

Controversies in indications of preimplantation genetic diagnosis （PGD）/preimplantation genetic screening （PGS） are developing with the rapid improvement of the technology for years. PGD is clearly indicated for monogenetic diseases, chromosome abnormalities and HLA typing, while PGS is ambiguous in indications, with the purpose to improve fertility rate and take-home baby rate for patients suffered from recurrent spontaneous abortion （RSA）, recurrent implantation failure and advanced maternal age. However, the first generation PGS technology [PGS#1, biopsy of blastomere plus fluorescent in situ hybridization （FISH）-PGS] has failed to provide promising clinical effect, and to the contrary decreased the fertility and take-home baby rate. The second generation PGS technology （PGS2.0）, which is focused on biopsy of blastocyst plus comprehensive chromosome screening （CCS） and adds severe male infertility factor as an indicator, has shown promising clinical effect of decreased abortion rate and increased fertility and take-home baby rate. PGS2.0 has dramatically changed features of assisted reproductive technology, and may probably become a routine item for all patients in reproductive centers in the future. Multicenter prospective random case control study is still needed for revaluate effect of PGS.