IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
Igenomix, Paterna, Spain.
Fertil Steril. 2021 Jul;116(1):165-173. doi: 10.1016/j.fertnstert.2020.12.031. Epub 2021 Mar 22.
To provide full morphokinetic characterization of embryos ranked with different degrees of chromosomal mosaicism.
Retrospective cohort study.
University-affiliated private in vitro fertilization clinic.
PATIENT(S): We analyzed 1,511 embryos from 424 intracytoplasmic sperm injection cycles by culturing embryos in a time-lapse imaging system and performing next-generation sequencing. We assessed 106 mosaic embryos.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Comparison of chromosomal, morphological, and morphokinetic characteristics of blastocysts classified as euploid, aneuploid, low-degree mosaic (30% to <50% aneuploid cells in trophectoderm biopsy), and high-degree mosaic (50% to <70% aneuploid cells in trophectoderm biopsy). Statistical analysis was performed using χ, Kruskal-Wallis, or analysis of variance tests according to data type and distribution. A two-way random effects model was used to calculate interoperator correlation of annotations, and a logistic mixed effects model was performed to evaluate the effect of confounders on morphokinetic timing.
RESULT(S): The mosaicism rate was ∼7% regardless of parental age. Mosaicism and uniform aneuploidies were not evenly distributed across chromosomes. The percentage of high-quality blastocysts significantly decreased from euploid (66.9%) to mosaic (52.8%) and aneuploid (47.7%). Aneuploid blastocysts significantly delayed development compared with euploid blastocysts in start of compaction (median, 84.72 hours postmicroinjection [hpm], interquartile range [IQR], 13.2; vs. median, 82.10 hpm, IQR, 11.5), start of blastulation (median, 101 hpm; IQR, 11.7; vs. median, 98.29 hpm, IQR, 10.5), and timing of blastocyst (median, 108.04 hpm, IQR, 11.50; vs. median, 104.71 hpm, IQR, 11.35). However, embryo morphokinetics were not correlated to the degree of mosaicism or to a mosaicism configuration that was apt for embryo transfer.
CONCLUSION(S): Morphokinetic timing of mosaic embryos overlaps with that of euploid and aneuploid embryos, which may reflect their unique genetic and developmental identity. Although this suggests mosaic embryos are not simply a misdiagnosis by-product, further studies are needed to reveal the true identity of this particular type of embryo.
全面描述胚胎的形态动力学特征，这些胚胎按不同程度的染色体嵌合性进行分级。
回顾性队列研究。
大学附属私立体外受精诊所。
我们通过在时间 lapse 成像系统中培养胚胎并进行下一代测序，分析了 424 个卵胞浆内单精子注射周期中的 1511 个胚胎。我们评估了 106 个嵌合胚胎。
无。
将胚胎分为整倍体、非整倍体、低程度嵌合体（滋养外胚层活检中有 30%至<50%的非整倍体细胞）和高程度嵌合体（滋养外胚层活检中有 50%至<70%的非整倍体细胞），比较其染色体、形态和形态动力学特征。根据数据类型和分布，使用 χ、Kruskal-Wallis 或方差分析检验进行统计分析。使用双向随机效应模型计算注释的操作者间相关性，并使用逻辑混合效应模型评估混杂因素对形态动力学时间的影响。
无论父母年龄如何，嵌合率均约为 7%。嵌合体和均匀的非整倍体在染色体上分布不均。高质量囊胚的比例从整倍体（66.9%）显著下降到嵌合体（52.8%）和非整倍体（47.7%）。与整倍体囊胚相比，非整倍体囊胚的致密化开始（中位数，84.72 小时 postmicroinjection [hpm]，四分位距 [IQR]，13.2；vs.中位数，82.10 hpm，IQR，11.5）、囊胚开始（中位数，101 hpm；IQR，11.7；vs.中位数，98.29 hpm，IQR，10.5）和囊胚时间（中位数，108.04 hpm，IQR，11.50；vs.中位数，104.71 hpm，IQR，11.35）明显延迟。然而，胚胎形态动力学与嵌合体的程度或适合胚胎移植的嵌合体构型无关。
嵌合胚胎的形态动力学时间与整倍体和非整倍体胚胎重叠，这可能反映了它们独特的遗传和发育特征。尽管这表明嵌合体胚胎不仅仅是误诊的产物，但需要进一步的研究来揭示这种特殊类型胚胎的真实身份。
