Genetic analysis of embryo in a human case of spontaneous oocyte activation: a case report

Abstract

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.

摘要

单性生殖是一种独特的生殖方式, 在哺乳动物中通常受到抑制, 而具有单性生殖起源的人类胚胎被认为不能产生后代。本报告旨在分析从病人体内获得的单性生殖卵母细胞, 以便更好地了解单性生殖和不孕原因。我们中心的一位38岁女性, 有10年的原发性不孕症病史, 她接受了体外受精-卵胞浆内单精子注射周期。取3个MII卵母细胞, 其中1个在进行ICSI前出现1个原核, 取卵后30h发育为胚胎。对胚胎进行卵裂球活检、基因组扩增、拷贝数变异（CNV）分析和多核蛋白分析。结果表明, 只有一个卵裂球含有DNA, CNV分析表明基因型为48, XX, +17, +17, 活检胚胎完全来自于母体遗传。这种分析可能有助于对有卵母细胞自发激活史的患者进行特异性诊断, 并提供个体化的治疗方案, 比如移植前进行遗传学诊断进而选择遗传学正常的胚胎进行移植。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Parthenogenesis
• spontaneous activation
• genetic analysis
• infertility

Disclosure statement

The authors declare no conflicts of interest.

Additional information

Funding

This work was supported by the Natural Science Foundation of Fujian Province of China (Grant No. 2019J01565) and Tong Yi Tang Pharmaceutical Co., Ltd.