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对单原核卵胞浆内单精子注射(ICSI)受精卵发育而来的囊胚进行染色体分析:采用双滋养外胚层活检方法。

Chromosomal analysis of blastocyst derived from monopronucleated ICSI zygotes: approach by double trophectoderm biopsy.

作者信息

Mateo Silvia, Vidal Francesca, Coll Lluc, Veiga Anna, Boada Montserrat

机构信息

Reproductive Medicine Service, Department of Obstetrics, Gynaecology and Reproduction, Women's Health Dexeus, Barcelona, Spain.

Cell Biology Unit, Faculty of Biosciences, Universitat Autònoma de Barcelona, Barcelona, Spain.

出版信息

JBRA Assist Reprod. 2017 Sep 1;21(3):203-207. doi: 10.5935/1518-0557.20170039.

Abstract

OBJECTIVE

This study aims to increase the knowledge about monopronucleated ICSI-derived blastocysts, analyzing trophectoderm biopsies by aCGH and FISH to evaluate their chromosome constitution.

METHODS

Fifteen monopronucleated ICSI-derived blastocysts were studied. Double trophectoderm biopsy was performed and analyzed by FISH and aCGH. The blastocysts were classified according to chromosome constitution. Disagreements between the two techniques were assessed.

RESULTS

Results obtained after FISH and aCGH analyses showed the following: 20% (3/15) and 60% (9/15) diploid females, respectively; 26.7% (4/15) and 26.7% (4/15) diploid males, respectively; and 53.3% (8/15) and 13.3% (2/15) mosaics, respectively. No mosaic male embryos were found using FISH or aCGH. There were disagreements in 40% (6/15) of the cases due to the higher detection of mosaicism by FISH compared to aCGH.

CONCLUSIONS

The combination of FISH and aCGH has been shown to be a suitable approach to increase the knowledge about monopronucleated ICSI-derived embryos. FISH analysis of blastocysts derived from monopronucleated ICSI zygotes enabled us to conclude that aCGH underestimates haploidy. Some diploid embryos diagnosed by aCGH are in fact mosaic. In cases where these embryos would be used for reproductive purposes, extra analysis of parental genome origin is recommended.

摘要

目的

本研究旨在通过对单原核卵胞浆内单精子注射(ICSI)获得的囊胚滋养外胚层活检组织进行比较基因组杂交(aCGH)和荧光原位杂交(FISH)分析,以评估其染色体构成,从而增加对这类囊胚的了解。

方法

对15个单原核ICSI获得的囊胚进行研究。进行双倍体滋养外胚层活检,并通过FISH和aCGH进行分析。根据染色体构成对囊胚进行分类。评估两种技术之间的差异。

结果

FISH和aCGH分析结果显示如下:分别有20%(3/15)和60%(9/15)为二倍体雌性;分别有26.7%(4/15)和26.7%(4/15)为二倍体雄性;分别有53.3%(8/15)和13.3%(2/15)为嵌合体。使用FISH或aCGH均未发现嵌合雄性胚胎。由于FISH比aCGH对嵌合现象的检测率更高,40%(6/15)的病例存在差异。

结论

FISH和aCGH相结合已被证明是增加对单原核ICSI获得的胚胎了解的合适方法。对单原核ICSI受精卵来源的囊胚进行FISH分析使我们得出结论,aCGH低估了单倍体率。一些经aCGH诊断为二倍体的胚胎实际上是嵌合体。在这些胚胎用于生殖目的的情况下,建议对亲代基因组来源进行额外分析。

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Molecular cytogenetics of human single pronucleated zygotes.人类单原核受精卵的分子细胞遗传学。
Reprod Sci. 2014 Dec;21(12):1472-82. doi: 10.1177/1933719114530185. Epub 2014 Apr 9.
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Uniparental disomy in the human blastocyst is exceedingly rare.人类囊胚中的单亲二倍体极为罕见。
Fertil Steril. 2014 Jan;101(1):232-6. doi: 10.1016/j.fertnstert.2013.08.051. Epub 2013 Sep 29.

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