Hellani Ali, Abu-Amero Khaled, Azouri Joseph, El-Akoum Siham
PGD Laboratory, Saad Specialist Hospital, Al-Khobar, 31952, Kingdom of Saudi Arabia.
Reprod Biomed Online. 2008 Dec;17(6):841-7. doi: 10.1016/s1472-6483(10)60413-0.
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 (MDA) 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 enrollment of more patients.
反复体外受精失败、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高频率染色体非整倍体现象。对至少有7次反复体外受精失败的8名患者成功进行了使用多重置换扩增(MDA)和微阵列比较基因组杂交(aCGH)的植入前基因筛查(PGS),目的是检测非整倍体并提高妊娠率。通过从每个胚胎中取出两个卵裂球,对总共41个8细胞或更多细胞的胚胎进行活检。这些卵裂球的DNA被扩增并通过aCGH技术进行分析。aCGH结果显示,在60%的已诊断胚胎中存在复杂的染色体异常情况。一些异常情况无法通过荧光原位杂交中使用的七探针组(13、16、18、21、22、X和Y)检测到。8名患者中有6名有可供移植的胚胎,其中6名中的5名妊娠试验呈阳性。据所知,本报告是首次显示使用aCGH技术进行PGS后妊娠的情况。这里获得的妊娠率令人鼓舞,将为更多患者的纳入打开大门。