如何安全有效地获得胚胎的遗传物质,如何克服极低样本量对诊断的的准确性和有效性的影响,以及如何开发适用范围更广的诊断方法是植入前遗传学诊断(preimplantation genetic diagno-sis,PGD)技术层面面临的主要挑战。多个随机对照前瞻性研究证实非整倍体筛查显著降低了高龄妇女的临床妊娠率和活产率,其原因可能是由于卵裂期胚胎的染色体不稳定性影响结果的准确性。通过极体活检进行非整倍体筛查的临床应用价值尚须进一步研究。 How to safely and effectively obtain genetic material of embryos, how to overcome the influence of extremely low sample size on the accuracy and validity of diagnosis, and how to develop a broader range of diagnostic methods are preimplantation genetic diagnostic- sis, PGD) the main technical challenges. Multiple randomized controlled prospective studies have confirmed that aneuploidy screening significantly reduces the clinical pregnancy and live birth rates in older women, possibly due to the accuracy of the results as a result of chromosomal instability in cleavage stage embryos. The clinical value of aneuploidy screening by polar body biopsy needs further study.