Role of aneuploidy on embryo implantation
Role of aneuploidy on embryo implantation
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DOI：
10.1159/000101741
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发表时间：
2007-01-01
影响因子：
2.1
通讯作者：
Gianaroli, L.
中科院分区：
文献类型：
--
作者：
Farfalli, V. I.;Magli, M. C.;Gianaroli, L.
人类中大约30%的卵母细胞携带染色体不平衡。这种情况具有严重的临床后果，因为大约三分之一的自然流产是非整倍体。与卵母细胞非整倍体增加最明显的联系是母亲的年龄。这一点已被对极体的分析直接证实。他们的分析可以证实卵母细胞对减数分裂错误的高倾向性。此外，对精子染色体的研究表明，在正常精子样本中，非整倍体的频率为6-7%，在严重的少弱畸形精子症或由于睾丸功能衰竭而导致的无精子症的情况下，非整倍体的频率显著增加。在植入前期，通过异常胚胎的生长停滞和退化，在早期发育的特定阶段存在异常胚胎的逐渐丧失。染色体异常的频率与患者的类别（高龄、重复周期、核型改变、重复流产、TESE）密切相关。基于这些考虑，非整倍体的植入前遗传学诊断在生殖医学中被提出，最终改善IVF后的临床结局。已经积累了大量的证据表明该技术的积极影响，报告种植率增加，同时自然流产和三体妊娠减少。
Approximately 30% of oocytes in the human species carry a chromosomal imbalance. This condition has severe clinical consequences as approximately one-third of spontaneous abortions are aneuploid. The most obvious link to the increase of aneuploidy in oocytes is maternal age. This has been directly confirmed by the analysis of polar bodies. Their analysis permits to give confirmation of the high predisposition of oocytes to meiotic errors. Also, the study of chromosomes on sperm has revealed a frequency of 6-7% aneuploidy in normal sperm samples, and is significantly increased in cases of severe oligoasthenoteratospermia or azoospermia due to testicular failure. During the preimplantation period there is a progressive loss of abnormal embryos at specific stages in early development, through growth arrest and degeneration of abnormal embryos. The frequency of chromosomal abnormalities is strictly related to the category of patients ( advanced maternal age, repeated cycles, altered karyotype, repeated miscarriages, TESE). Based on these considerations, preimplantation genetic diagnosis for aneuploidy is proposed in reproductive medicine with the finality of improving the clinical outcome after IVF. Substantial evidence has been accumulated on the positive impact of the technique, reporting increased implantation rates and a concomitant decrease of spontaneous abortions and trisomic pregnancies.