Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening
Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening
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DOI：
10.1016/s1472-6483(10)60413-0
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发表时间：
2008-12-01
影响因子：
4
通讯作者：
El-Akoum, Siham
中科院分区：
文献类型：
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作者：
Hellani, Ali;Abu-Amero, Khaled;El-Akoum, Siham
反复IVF失败，着床失败和早期胚胎死亡可归因于在人类胚胎中观察到的染色体非整倍体的高频率。采用多位移扩增（NIDA）和阵列比较基因组杂交（aCGH）技术成功地对8例至少7例IVF复发失败的患者进行了植入前遗传学筛查（PGS），目的是检测非整倍体并改善妊娠率。通过从每个胚胎中取出两个卵裂球，共对41个具有8个或更多细胞的胚胎进行了活组织检查。从这些卵裂球中提取DNA，用aCGH技术进行扩增和分析。aCGH结果显示60%的诊断胚胎有复杂的染色体异常。荧光原位杂交所用的七探针面板（13、16、18、21、22、X和Y）无法检测到一些异常。8名患者中有6名移植了胚胎，其中5名妊娠试验呈阳性。据目前所知，该报告是第一个使用aCGH技术显示PGS后怀孕的报告。这里获得的妊娠率是令人鼓舞的，并将为更多患者的登记打开大门。
Recurrent IVF failure, implantation failure and early embryo demise can be attributed to the high frequency of chromosomal aneuploidy observed in human embryos. Preimplantation genetic screening (PGS) using multiple displacement amplifications (NIDA) and array comparative genomic hybridization (aCGH) was successfully performed on eight patients with a minimum of seven recurrent IVF failures with the aim of detecting aneuploidy and ameliorating pregnancy rate. A total of 41 embryos with eight or more cells were biopsied by taking two blastomeres from each embryo. The DNA from these blastomeres were amplified and analysed by aCGH technology. The aCGH results showed a complex panel of chromosomal abnormalities in 60% of the diagnosed embryos. Some abnormalities could not be detected by the seven-probe panel (13, 16 18, 21 22, X and Y) used in fluorescence in-situ hybridization. Six out of eight patients had embryos for transfer with five out of those six showing positive pregnancy tests. As far as is known, this report is the first to show a pregnancy after PGS using the aCGH technology. The pregnancy rate obtained here is encouraging and will open the door for enrolment of more patients.