Variation of Female Pronucleus Reveals Oocyte or Embryo Chromosomal Copy Number Variations

Jingwei Yang, Yikang Wang, Chong Li, Wei Han, Weiwei Liu, Shun Xiong, Qi Zhang, Keya Tong, Guoning Huang, Xiaodong Zhang
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Abstract

The characteristics of the human pronuclei (PNs), which exist 16–22 h after fertilization, appear to serve as good indicators to evaluate the quality of human oocyte and embryo, and may reflect the status of female and male chromosome composition. Here, a quantitative PN measurement method that is generated by applying expert experience combined with deep learning from large annotated datasets is reported. After mathematic reconstruction of PNs, significant differences are obtained in chromosome-normal rate and chromosomal small errors such as copy number variants by comparing the size of the reconstructive female PN. After integrating the whole procedure of PN dynamics and adjusting for errors that occur during PN identification, the results are robust. Notably, all positive prediction results are obtained from the female propositus population. Thus, the size of female PNs may mirror the internal quality of the chromosomal integrity of the oocyte. Embryos that develop from zygotes with larger female PNs may have a reduced risk of copy number variations.

Abstract Image

雌性原核变异揭示卵母细胞或胚胎染色体拷贝数变异
人原核(PNs)在受精后16-22 h存在,其特征可以作为评价人卵母细胞和胚胎质量的良好指标,反映男女染色体组成的状况。本文报道了一种定量PN测量方法,该方法通过应用专家经验结合深度学习从大型带注释的数据集生成。对雌性PN进行数学重建后,通过比较重建雌性PN的大小,在染色体正常率和拷贝数变异等染色体小错误方面存在显著差异。将整个过程整合起来,并对辨识过程中的误差进行校正,结果具有鲁棒性。值得注意的是,所有阳性预测结果都来自于雌性原生种群。因此,雌性PNs的大小可能反映了卵母细胞染色体完整性的内在质量。具有较大雌性PNs的受精卵发育的胚胎可能具有较低的拷贝数变异风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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