Reproductive Medicine Center, The First Affiliated Hospital of Xiamen University, Xiamen, China.
Intensive Care Unit, Fujian Medical University Xiamen Humanity Hospital, Xiamen, China.
Gynecol Endocrinol. 2020 Apr;36(4):294-296. doi: 10.1080/09513590.2019.1687671. Epub 2019 Nov 10.
Parthenogenesis, a unique form of reproduction, is normally inhibited in mammals and a human embryo with parthenogenetic origin is not considered capable of producing offspring. The aim of this report is to analyze a parthenogenetic oocyte retrieved from a patient so as to have a better understanding on parthenogenesis and causes of infertility. A 38-year-old woman presented at our center with a history of primary infertility for 10 years and underwent an IVF-ICSI cycle. Three MII oocytes retrieved and one of which presented with 1 pronucleus before conducting ICSI and developed into an embryo 30 h post-retrieval. Blastomere biopsy, genome amplification, copy number variation (CNV) analysis and MultiSNPs analysis was performed on the embryo. The results showed that only one blastomere contains DNA and CNV analysis indicated a genotype of 48, XX, +17, +17 and the genetic contribution of biopsied embryo was of exclusively maternal origin. Such analysis might be beneficial for patients with a history of oocyte spontaneous activation in diagnosing case-specific aberrations and providing individualized therapeutic strategies such as preimplantation genetic diagnosis to choose a genetic normal embryo to transplant.
孤雌生殖，一种独特的繁殖形式，通常在哺乳动物中受到抑制，并且具有孤雌生殖起源的人类胚胎被认为不能够产生后代。本报告的目的是分析从患者中取出的孤雌生殖卵母细胞，以便更好地了解孤雌生殖和不孕的原因。一位 38 岁的女性因原发性不孕 10 年而来到我们中心，并进行了一次 IVF-ICSI 周期。我们从她的 3 个 MII 卵母细胞中取出一个，并在进行 ICSI 之前，该卵母细胞出现 1 个原核，然后在取卵后 30 小时发育成胚胎。对胚胎进行了胚裂活检、基因组扩增、拷贝数变异 (CNV)分析和多 SNPs 分析。结果表明，只有一个胚裂含有 DNA，CNV 分析显示基因型为 48, XX, +17, +17，活检胚胎的遗传贡献完全来自母体。这种分析可能对有卵母细胞自发激活史的患者有益，有助于诊断特定的异常情况，并提供个体化的治疗策略，如植入前遗传学诊断，以选择遗传正常的胚胎进行移植。
