The Frequency of Chromosomal Euploidy Among 3PN Embryos
The Frequency of Chromosomal Euploidy Among 3PN Embryos
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3PN胚胎染色体整倍体频率
DOI：
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发表时间：
2019
影响因子：
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通讯作者：
A. Hestiantoro
中科院分区：
文献类型：
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作者：
K. Mutia;B. Wiweko;P. Iffanolida;R. Febri;N. Muna;O. Riayati;S. Jasirwan;T. Yuningsih;E. Mansyur;A. Hestiantoro
背景资料：胚胎形态学的评价是用于评价发育时间的最重要参数之一，也提供了染色体故障或变性的指示。评价受精事件的第一步是确定原核（PN）的数量和形状。正常情况下，受精卵具有两个偶数PN。然而，一些胚胎发育异常受精卵可能是三原核受精卵（3 PN）。研究方法：从12名在印度尼西亚雅加达Cipto Mangunkusumo总医院接受体外受精（IVF）的妇女中收集了30个胚胎。将胚胎培养至第5-6天的胚泡期。在显微镜下用激光刺穿透明细胞进行卵裂球活检。使用下一代测序（NGS）分析染色体数目异常。结果：30例3 PN合子胚胎中，染色体排列正常的占33.3%，其中22对为常染色体，2对为性染色体。其余样本群体均检测出染色体异常（66.7%），其中异常率最高的是三体（43.3%），其次是嵌合体（13.4%）和非整倍体（10%）。结论：这是一个初步的研究表明，并非所有的形态学3 PN胚胎的遗传异常。
Background: The evaluation of embryo morphology is one of the most important parameters used to evaluate developmental timing, also providing an indication of chromosomal failure or degeneration. The first step in the evaluation of a fertilization event is determining the number and shape of the pronuclei (PN). Normally fertilized eggs possess two even PN. However, some embryos which develop from abnormally fertilized zygotes may be tri-pronuclear zygotes (3PN). Methods: Thirty embryos were collected from 12 women who underwent in vitro fertilization (IVF) at Dr. Cipto Mangunkusumo General Hospital in Jakarta, Indonesia. Embryos were cultured until the blastocyst stage on days 5–6. The blastomere biopsy was performed by piercing the zona pellucida with a laser under a microscope. Chromosomal numerical abnormalities were analyzed using Next Generation Sequencing (NGS). Results: Among the 30 embryos with 3PN zygotes, 33.3% had a normal chromosomal array, with 22 pairs of autosomes and 2 pairs of sex chromosomes. While the rest of sample population detected as abnormal chromosome (66.7%), with the highest percentage of abnormality was triploidy 43.3%, followed by mosaicism 13.4% and aneuploidy 10%. Conclusion: This was a preliminary study revealed not all morphologically 3PN embryos are genetically abnormal.