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Comprehensive chromosome analysis of blastocysts before implantation using array CGH

机译:使用阵列CGH对囊胚着床前的染色体进行全面分析

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摘要

Background Chromosomal abnormalities are common in embryos produced in vitro and cause implantation failure, miscarriage, and serious medical problems in infants. Because preimplantation genetic screening (PGS) is increasingly being used to detect aneuploidy in embryos with the purpose of improving implantation rates after IVF (in vitro fertilization), we aimed to validate the usefulness of array CGH for the preimplantation genetic screening (PGS) of embryos at the blastocyst stage of development. Results A total of 150 blastocysts were biopsied from couples undergoing IVF and analyzed using array CGH. We found that 54.5% (73/134) of the blastocysts were euploid embryos, whereas 45.5% of the embryos (61/134) had chromosomal abnormalities. Multiple chromosome abnormality was most frequently observed (34.4%), and dual aneuploidy was observed in 26.2% of the embryos. Monosomy (21.3%) appeared more frequently than trisomy (18%). Conclusion Chromosomal microarray analysis provided clinically significant cytogenetic information regarding the frequency and variety of chromosomal abnormalities observed in embryos at the blastocyst stage, suggesting that this is a useful tool for comprehensive aneuploidy screening in IVF.
机译:背景技术染色体异常常见于体外产生的胚胎中,并会导致婴儿植入失败,流产和严重的医学问题。由于植入前遗传筛选(PGS)越来越多地用于检测胚胎中的非整倍性,目的是提高IVF(体外受精)后的植入率,因此我们旨在验证阵列CGH对胚胎植入前遗传筛选(PGS)的有效性在胚泡发育阶段。结果从接受IVF的夫妇中总共抽取了150个胚泡,并使用阵列CGH对其进行了分析。我们发现54.5%(73/134)的胚泡是整倍体胚胎,而45.5%(61/134)的胚具有染色体异常。最常见的是多染色体异常(34.4%),在26.2%的胚胎中发现了双倍体非整倍性。单体性(21.3%)比三体性(18%)出现的频率更高。结论染色体微阵列分析提供了有关胚泡阶段胚胎中观察到的染色体异常的频率和种类的临床重要细胞遗传学信息,这表明这是用于IVF全面非整倍性筛选的有用工具。

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