Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass.
Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass.
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DOI：
10.1093/molehr/gaq062
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发表时间：
2010-12
影响因子：
4
通讯作者：
Murray MJ
中科院分区：
文献类型：
--
作者：
Johnson DS;Cinnioglu C;Ross R;Filby A;Gemelos G;Hill M;Ryan A;Smotrich D;Rabinowitz M;Murray MJ
非整倍性在囊胚胚胎中已有很好的记录，但以前的研究在规模上受到限制和/或缺乏机制数据。我们以前报道过临床前验证微阵列24染色体植入前遗传筛查在24小时的协议。该方法诊断染色体拷贝数，结构染色体畸变，非整倍性的亲本来源，并区分某些减数分裂和有丝分裂错误。在这项研究中，我们的目的是检查人类囊胚的非整倍体，并确定滋养外胚层（TE）和内细胞团（ICM）之间的核型对应关系。我们将17对夫妇的51个囊胚分解为ICM和一个或两个TE部分。母亲的平均年龄为31岁。接下来，我们对所有样本进行了24染色体微阵列分子核型分析，然后对数据进行了回顾性分析。平均每条染色体的置信度为99.95%。大约80%的囊胚是整倍体。大多数非整倍体胚胎是简单的非整倍体，即一个或两个全染色体不平衡。结构染色体畸变，这是常见的卵裂期胚胎，发生在只有三个囊胚（5.8%）。来自相同胚胎的所有TE活检结果一致。51份ICM样本中有49份（96.1%）与来自相同胚胎的TE活检结果一致。TE和ICM之间的不一致仅发生在两个胚胎的结构染色体畸变。我们的结论是TE核型是一个很好的预测ICM核型。TE和ICM之间的不一致只发生在胚胎染色体结构畸变。
Aneuploidy has been well-documented in blastocyst embryos, but prior studies have been limited in scale and/or lack mechanistic data. We previously reported preclinical validation of microarray 24-chromosome preimplantation genetic screening in a 24-h protocol. The method diagnoses chromosome copy number, structural chromosome aberrations, parental source of aneuploidy and distinguishes certain meiotic from mitotic errors. In this study, our objective was to examine aneuploidy in human blastocysts and determine correspondence of karyotypes between trophectoderm (TE) and inner cell mass (ICM). We disaggregated 51 blastocysts from 17 couples into ICM and one or two TE fractions. The average maternal age was 31. Next, we ran 24-chromosome microarray molecular karyotyping on all of the samples, and then performed a retrospective analysis of the data. The average per-chromosome confidence was 99.95%. Approximately 80% of blastocysts were euploid. The majority of aneuploid embryos were simple aneuploid, i.e. one or two whole-chromosome imbalances. Structural chromosome aberrations, which are common in cleavage stage embryos, occurred in only three blastocysts (5.8%). All TE biopsies derived from the same embryos were concordant. Forty-nine of 51 (96.1%) ICM samples were concordant with TE biopsies derived from the same embryos. Discordance between TE and ICM occurred only in the two embryos with structural chromosome aberration. We conclude that TE karyotype is an excellent predictor of ICM karyotype. Discordance between TE and ICM occurred only in embryos with structural chromosome aberrations.
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影响因子：
4.1
作者：
Frumkin, Tsvia;Malcov, Mira;Ben-Yosef, Dalit
通讯作者：
Ben-Yosef, Dalit
影响因子：
6.7
作者：
Bielanska, M;Tan, SL;Ao, A
通讯作者：
Ao, A
影响因子：
4
作者：
Munne, S.;Chen, S.;Cohen, J.
通讯作者：
Cohen, J.
影响因子：
3
作者：
McArthur, S. J.;Leigh, D.;Jansen, R. P. S.
通讯作者：
Jansen, R. P. S.
影响因子：
6.7
作者：
McArthur, SJ;Leigh, D;Jansen, RPS
通讯作者：
Jansen, RPS