Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results.
Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results.
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DOI：
10.1093/humrep/der294
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发表时间：
2011-11
期刊：
影响因子：
--
通讯作者：
Gianaroli L
中科院分区：
文献类型：
--
作者：
Geraedts J;Montag M;Magli MC;Repping S;Handyside A;Staessen C;Harper J;Schmutzler A;Collins J;Goossens V;van der Ven H;Vesela K;Gianaroli L
几项随机对照试验尚未显示植入前对卵裂阶段胚胎进行基因筛查(PGS)活组织检查和评估多达10条染色体的非整倍体有何益处。因此，计划进行一项原则验证性研究，通过全基因组扩增和基于微阵列的比较基因组杂交(阵列CGH)分析来确定替代形式的PGS的可靠性，即通过极体(PB)活检进行PGS。在两个中心，所有同意这项研究的患者的中期II期成熟卵母细胞都进行了ICSI受精。分别取第1、2代PBS(PB1、PB2)，用CGH阵列进行染色体拷贝数分析。如果发现其中一个或两个PBS为非整倍体，则相应的受精卵也被阵列CGH处理以进行一致性分析。两组受精卵均取自41对夫妇的42个周期的226个受精卵，平均每个周期5.5个，范围1-15岁，平均母亲年龄40.0岁。其中，可预测受精卵倍性状态的有195个(86%)，其中整倍体55个(28%)，非整倍体140个(72%)。除了一个例外，每个周期至少有一个预测的非整倍体受精卵，在42个周期中有19个(45%)预测所有受精卵都是非整倍体。其余23个周期(55%)移植新鲜胚胎，1个周期冷冻移植。8名患者有一次临床妊娠，其中7名是进行性妊娠(持续妊娠率：每个周期17%，每次移植30%)。用阵列CGH对156个受精卵进行了倍性分析，其中整倍体38个(24%)，非整倍体118个(76%)。在138例中，PBS和相应的受精卵都有完整的信息。受精卵的倍性状态与PBS的倍性状态一致的有130例(94%)，不一致的有8例(6%)。这项原理验证研究表明，通过对两个PBS的阵列计算全息分析，可以以可接受的精度预测合子的倍性。
Several randomized controlled trials have not shown a benefit from preimplantation genetic screening (PGS) biopsy of cleavage-stage embryos and assessment of up to 10 chromosomes for aneuploidy. Therefore, a proof-of-principle study was planned to determine the reliability of alternative form of PGS, i.e. PGS by polar body (PB) biopsy, with whole genome amplification and microarray-based comparative genomic hybridization (array CGH) analysis. In two centres, all mature metaphase II oocytes from patients who consented to the study were fertilized by ICSI. The first and second PBs (PB1and PB2) were biopsied and analysed separately for chromosome copy number by array CGH. If either or both of the PBs were found to be aneuploid, the corresponding zygote was then also processed by array CGH for concordance analysis. Both PBs were biopsied from a total of 226 zygotes from 42 cycles (average 5.5 per cycle; range 1–15) in 41 couples with an average maternal age of 40.0 years. Of these, the ploidy status of the zygote could be predicted in 195 (86%): 55 were euploid (28%) and 140 were aneuploid (72%). With only one exception, there was at least one predicted aneuploid zygote in each cycle and in 19 out of 42 cycles (45%), all zygotes were predicted to be aneuploid. Fresh embryos were transferred in the remaining 23 cycles (55%), and one frozen transfer was done. Eight patients had a clinical pregnancy of which seven were evolutive (ongoing pregnancy rates: 17% per cycle and 30% per transfer). The ploidy status of 156 zygotes was successfully analysed by array CGH: 38 (24%) were euploid and 118 (76%) were aneuploid. In 138 cases complete information was available on both PBs and the corresponding zygotes. In 130 (94%), the ploidy status of the zygote was concordant with the ploidy status of the PBs and in 8 (6%), the results were discordant. This proof-of-principle study indicates that the ploidy of the zygote can be predicted with acceptable accuracy by array CGH analysis of both PBs.
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影响因子：
6.1
作者：
Harper, Joyce;Coonen, Edith;Vesela, Katerina
通讯作者：
Vesela, Katerina
DOI：
10.1080/14647270802041607
发表时间：
2008-06-01
期刊：
Human fertility (Cambridge, England)
影响因子：
--
作者：
Anderson, Richard A;Pickering, Sue
通讯作者：
Pickering, Sue
影响因子：
6.7
作者：
Li, M;DeUgarte, CM;Hill, DL
通讯作者：
Hill, DL
影响因子：
6.1
作者：
Baart, EB;Van Opstal, D;Martini, E
通讯作者：
Martini, E
影响因子：
6.7
作者：
Gutierrez-Mateo, Cristina;Colls, Pere;Munne, Santiago
通讯作者：
Munne, Santiago