Rubio Carmen, Rodrigo Lorena, Mercader Amparo, Mateu Emilia, Buendía Pilar, Pehlivan Tugce, Viloria Thamara, De los Santos Ma José, Simón Carlos, Remohí José, Pellicer Antonio
Instituto Valenciano de Infertilidad, Universidad de Valencia, Valencia, Spain.
Prenat Diagn. 2007 Aug;27(8):748-56. doi: 10.1002/pd.1773.
To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development.
This study includes 6936 embryos from 1245 women undergoing preimplantation genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed on day 3, and embryos were co-cultured until day 5, when embryo transfer was performed.
In the aneuploidy screening regimen, normal euploid embryos showed significantly higher blastocyst rates (68.2%) compared to chromosomally abnormal (42.8%, p < 0.0001) and mosaic (53.7%, p < 0.0001) embryos. Among aneuploid embryos for autosomes, higher blastocyst rates were observed in trisomies than monosomies, although only statistically significant in patients over 36 years of age (50.8 vs 38.9%; p < 0.0001). In contrast, in embryos with sex chromosomes aneuploidy, similar blastocyst rates were observed between trisomies and monosomy X.
Embryos with certain types of chromosomal abnormalities were negatively selected during preimplantation embryo development. Despite this selection, a remarkable percentage of chromosomally abnormal embryos can develop normally to blastocyst stage with high probability of implantation and pregnancy.
评估染色体数目异常对植入前胚胎发育的影响。
本研究纳入了1245例接受植入前基因诊断(PGD)的女性的6936枚胚胎。非整倍体筛查的指征包括:复发性流产、植入失败、严重男性因素、高龄产妇以及混合原因。在第3天进行胚胎活检,并将胚胎共培养至第5天进行胚胎移植。
在非整倍体筛查方案中,正常整倍体胚胎的囊胚率(68.2%)显著高于染色体异常胚胎(42.8%,p<0.0001)和嵌合胚胎(53.7%,p<0.0001)。在常染色体非整倍体胚胎中,三体胚胎的囊胚率高于单体胚胎,尽管仅在36岁以上患者中具有统计学意义(50.8%对38.9%;p<0.0001)。相比之下,在性染色体非整倍体胚胎中,三体和X单体胚胎的囊胚率相似。
某些类型染色体异常的胚胎在植入前胚胎发育过程中被负面选择。尽管有这种选择,但相当比例的染色体异常胚胎仍有可能正常发育至囊胚阶段,并具有较高的植入和妊娠概率。