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本文引用的文献

1
Validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of blastocysts.基于新一代测序的囊胚24条染色体非整倍体筛查方案的验证
Fertil Steril. 2016 Jun;105(6):1532-6. doi: 10.1016/j.fertnstert.2016.01.040. Epub 2016 Feb 19.
2
Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts.嵌合非整倍体囊胚宫内移植后获得健康婴儿
N Engl J Med. 2015 Nov 19;373(21):2089-90. doi: 10.1056/NEJMc1500421.
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Chromosomal characteristics at cleavage and blastocyst stages from the same embryos.来自同一胚胎的卵裂期和囊胚期的染色体特征。
J Assist Reprod Genet. 2015 May;32(5):781-7. doi: 10.1007/s10815-015-0450-1. Epub 2015 Feb 21.
4
Array comparative genomic hybridization analyses of all blastomeres of a cohort of embryos from young IVF patients revealed significant contribution of mitotic errors to embryo mosaicism at the cleavage stage.对一组年轻体外受精患者胚胎的所有卵裂球进行的阵列比较基因组杂交分析显示,有丝分裂错误对卵裂期胚胎嵌合现象有显著影响。
Reprod Biol Endocrinol. 2014 Nov 24;12:105. doi: 10.1186/1477-7827-12-105.
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Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos.基于多次退火和环状扩增循环测序法对卵裂期胚胎进行24条染色体非整倍体筛查的验证
Fertil Steril. 2014 Dec;102(6):1685-91. doi: 10.1016/j.fertnstert.2014.08.015. Epub 2014 Sep 17.
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Cell lines from morphologically abnormal discarded IVF embryos are typically euploid and unaccompanied by intrachromosomal aberrations.来自形态异常的废弃体外受精胚胎的细胞系通常是整倍体,且无染色体内畸变。
Reprod Biomed Online. 2014 Jun;28(6):780-8. doi: 10.1016/j.rbmo.2014.02.001. Epub 2014 Feb 25.
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Genome analyses of single human oocytes.人类单个卵母细胞的基因组分析。
Cell. 2013 Dec 19;155(7):1492-506. doi: 10.1016/j.cell.2013.11.040.
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Selecting the optimal time to perform biopsy for preimplantation genetic testing.选择进行胚胎植入前遗传学检测活检的最佳时间。
Fertil Steril. 2013 Sep;100(3):608-14. doi: 10.1016/j.fertnstert.2013.07.004.
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In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial.体外受精中单囊胚移植:一项随机对照试验。
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10
Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease.基于靶向下一代测序的单基因疾病植入前遗传学诊断的评估。
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对具有内细胞团和不同区域滋养外胚层细胞的非整倍体囊胚进行重新分析。

Re-analysis of aneuploidy blastocysts with an inner cell mass and different regional trophectoderm cells.

作者信息

Huang Jin, Yan Liying, Lu Sijia, Zhao Nan, Qiao Jie

机构信息

Reproductive Medical Centre, Department of Obstetrics and Gynecology, Peking University Third Hospital, 49 Huayuan North Rd, Haidian, Beijing, China.

Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, 100191, China.

出版信息

J Assist Reprod Genet. 2017 Apr;34(4):487-493. doi: 10.1007/s10815-017-0875-9. Epub 2017 Feb 10.

DOI:10.1007/s10815-017-0875-9
PMID:28188593
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5401696/
Abstract

PURPOSE

The purpose of this study is to explore which part of the trophectoderm best represents the inner cell mass after aCGH analysis.

METHODS

Fifty-one preimplantation genetic diagnosis/preimplantation genetic screening of abnormal blastocysts diagnosed by array comparative genomic hybridization were included in this study. Blastocysts were thawed, incubated for 3 to 4 h, and then biopsied. Four regions were biopsied per blastocyst, including the inner cell mass (ICM), trophectoderm (TE) cells opposite the ICM, TE cells at the upper right of the ICM, and TE cells at the lower right of the ICM. The biopsied pieces were processed through multiple annealing and looping-based amplification cycle sequenced for 24-chromosome aneuploidy screening. The aneuploidy results were compared among the ICM and the different regional trophectoderm cells from the same blastocyst.

RESULTS

Fifty of 51 (98.04%) ICM samples were concordant with at least one of the TE biopsies derived from the same embryos. There were 43 blastocysts in which ICM and the other three TE pieces were consistent. Discordance among the four pieces occurred in eight blastocysts. Only one blastocyst was discordant between the ICM and the other three TE pieces, while seven blastocysts were discordant between one of TE and the other three biopsied pieces. There was no special region that the mosaic TE was located.

CONCLUSIONS

Our findings indicate that TE aneuploidy is an excellent predictor of ICM aneuploidy. The blastocyst mosaic cells are inclined to be located in TE. Moreover, the mosaic TE was not limited to the special region.

摘要

目的

本研究旨在探索在进行比较基因组杂交分析后,滋养外胚层的哪一部分最能代表内细胞团。

方法

本研究纳入了51例经阵列比较基因组杂交诊断为异常囊胚的植入前基因诊断/植入前基因筛查病例。囊胚解冻后,孵育3至4小时,然后进行活检。每个囊胚取四个区域进行活检,包括内细胞团(ICM)、与ICM相对的滋养外胚层(TE)细胞、ICM右上方的TE细胞以及ICM右下方的TE细胞。活检组织经多次退火环状扩增循环测序进行24条染色体非整倍体筛查。比较同一囊胚的ICM和不同区域滋养外胚层细胞的非整倍体结果。

结果

51个ICM样本中有50个(98.04%)与来自同一胚胎的至少一次TE活检结果一致。有43个囊胚的ICM与其他三个TE样本一致。8个囊胚的四个样本之间存在不一致。只有1个囊胚的ICM与其他三个TE样本不一致,而7个囊胚中一个TE样本与其他三个活检样本不一致。镶嵌性TE没有特定的定位区域。

结论

我们的研究结果表明,TE非整倍体是ICM非整倍体的良好预测指标。囊胚镶嵌细胞倾向于位于TE。此外,镶嵌性TE不限于特定区域。