Kilani Z, Magli Mc, Qaddomi E, Ferraretti Ap, Shaban M, Crippa A, Haj Hassan L, Shenfield F, Gianaroli L
The Farah Hospital, Amman, Jordan.
Reproductive Medicine Unit, SISMeR, Bologna, Italy.
Reprod Biomed Online. 2014 Sep;29(3):333-9. doi: 10.1016/j.rbmo.2014.04.018. Epub 2014 May 16.
This study included 173 young couples of proven fertility who had previously undergone preimplantation genetic screening for chromosomes X and Y for family balancing. Several months later, when the outcome of the pregnancies was already known, the blastomeres from the corresponding embryos transferred were reanalysed by fluorescence in-situ hybridization (FISH) for chromosomes 13, 16, 18, 21, 22 with the aim of investigating correlation with embryo viability and the level of FISH sensitivity (embryos confirmed to be euploid). According to the results, informative in 152 couples, the proportion of euploid embryos was significantly lower in 53 nonpregnant women when compared with 99 women with term pregnancy (49% versus 75% respectively, P < 0.001). In addition, in 21 nonpregnant patients, all embryos transferred were found to be chromosomally abnormal. The level of FISH sensitivity was calculated in the group of term pregnancies where the number of euploid embryos was expected to exceed or match with the number of babies born. The resulting false-negative rate was 4.0% per patient and 1.9% per embryo. These findings confirmed the limited prediction power of embryo morphology on implantation but also the relevance of chromosomal abnormalities in causing embryo demise.
本研究纳入了173对经证实有生育能力的年轻夫妇，他们之前为了实现家庭平衡而接受了X和Y染色体的植入前基因筛查。几个月后，当妊娠结果已经明确时，对相应移植胚胎的卵裂球进行荧光原位杂交（FISH），检测13、16、18、21、22号染色体，以研究其与胚胎活力及FISH敏感性水平（证实为整倍体的胚胎）之间的相关性。结果显示，在152对夫妇中，53名未怀孕女性的整倍体胚胎比例显著低于99名足月妊娠女性（分别为49%和75%，P<0.001）。此外，在21名未怀孕患者中，所有移植胚胎均被发现存在染色体异常。在足月妊娠组中计算FISH敏感性水平，预期整倍体胚胎数量超过或与出生婴儿数量匹配。结果显示，每位患者的假阴性率为4.0%，每个胚胎的假阴性率为1.9%。这些发现证实了胚胎形态对着床的预测能力有限，但也证实了染色体异常在导致胚胎死亡中的相关性。
