UCL Centre for PG&D, Institute for Women's Health, University College London, 86-96 Chenies Mews, WC1E6HX London, UK.
Hum Reprod. 2010 Apr;25(4):821-3. doi: 10.1093/humrep/dep476. Epub 2010 Feb 2.
Since 2004, there have been 11 randomized controlled trials (RCTs) mainly for advanced maternal age (AMA), which have shown no benefit of performing preimplantation genetic screening (PGS). Ten of the RCTs have been performed at the cleavage stage and one at the blastocyst stage. It is probable that the high levels of chromosomal mosaicism at cleavage stages, which may result in the tested cell not being representative of the embryo, and the inability to examine all of the chromosomes using fluorescence in situ hybridization, have contributed to the lack of positive outcome from the RCTs. We suggest that future RCTs should examine alternative biopsy timing (polar body and/or trophectoderm biopsy), and should apply technologies that allow more comprehensive testing to include all chromosomes (microarray-based testing) to determine if PGS shows an improvement in delivery rate. Currently there is no evidence that routine PGS is beneficial for patients with AMA and conclusive data (RCTs) on repeated miscarriage, implantation failure and severe male factor are missing. To evaluate benefits of PGS, an ESHRE trial has recently been started on patients with AMA using polar body biopsy and array-comparative genomic hybridization, which should bring more information on this patient group in the near future.
自 2004 年以来，已经有 11 项主要针对高龄产妇（AMA）的随机对照试验（RCT），但并未显示胚胎植入前遗传学筛查（PGS）有任何益处。这 11 项 RCT 中有 10 项是在卵裂期进行的，1 项是在囊胚期进行的。卵裂期染色体嵌合率高，可能导致检测细胞不能代表胚胎，以及荧光原位杂交技术无法检测所有染色体，这可能是 RCT 结果不佳的原因。我们建议未来的 RCT 应检查替代活检时间（极体和/或滋养外胚层活检），并应应用允许更全面检测包括所有染色体的技术（基于微阵列的检测），以确定 PGS 是否能提高分娩率。目前尚无证据表明常规 PGS 对 AMA 患者有益，也缺乏关于反复流产、着床失败和严重男性因素的结论性数据（RCT）。为了评估 PGS 的益处，ESHRE 最近针对 AMA 患者使用极体活检和 array-comparative genomic hybridization 启动了一项试验，这应该会在不久的将来为这一患者群体带来更多信息。
