What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee
What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee
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DOI：
10.1093/humrep/dep476
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发表时间：
2010-04-01
影响因子：
6.1
通讯作者：
Vesela, Katerina
中科院分区：
文献类型：
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作者：
Harper, Joyce;Coonen, Edith;Vesela, Katerina
自2004年以来，已有11项主要针对高龄产妇（AMA）的随机对照试验（RCT），均显示进行植入前遗传筛查（PGS）没有任何益处。其中十项随机对照试验是在卵裂阶段进行的，一项是在囊胚阶段进行的。卵裂阶段的高水平染色体嵌合可能导致测试的细胞不能代表胚胎，并且无法使用荧光原位杂交检查所有染色体，这可能导致随机对照试验缺乏阳性结果。我们建议未来的随机对照试验应检查替代活检时机（极体和/或滋养外胚层活检），并应应用允许更全面的测试以包括所有染色体（基于微阵列的测试）的技术，以确定 PGS 是否显示出分娩率的改善。目前没有证据表明常规PGS对AMA患者有益，并且缺乏反复流产、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，最近已开始对 AMA 患者进行一项 ESHRE 试验，使用极体活检和阵列比较基因组杂交，这应该会在不久的将来带来有关该患者群体的更多信息。
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.