Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos
Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos
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DOI：
10.1016/j.fertnstert.2010.09.010
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发表时间：
2011-03-01
影响因子：
6.7
通讯作者：
Munne, Santiago
中科院分区：
文献类型：
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作者：
Gutierrez-Mateo, Cristina;Colls, Pere;Munne, Santiago
目的：验证和确定最佳的阵列比较基因组杂交（aCGH;阵列CGH）方案植入前遗传筛查（PGS.Design）：胚胎有一个细胞作为活检标本，并分析了两个阵列CGH方案之一。通过荧光原位杂交（FISH）对异常胚胎进行再分析。设置：参考实验室。患者：捐赠胚胎或接受PGS的患者。干预：胚胎活检，阵列CGH，FISH再分析。主要结局指标：诊断，无结果率和错误率。结果：方法一产生了11.2%的胚胎没有结果，错误率为9.1%，而方法二分别为3%和1.9%。此后，只有方法二被用于临床。卵裂期胚胎的非整倍体率为63.2%，随母体年龄的增加而显著增加。非整倍体中最常见的染色体是16、22、21和15。我们报告的第一个活产后，阵列CGH结合单卵裂球biopsiz. Conclusions（S）：阵列CGH被证明是非常强大的（2.9%没有结果）和特异性（1.9%的错误率）时，适用于快速（24小时）分析单细胞活检卵裂期胚胎。这种全面的染色体分析技术是第一个通过用另一种技术（e.例如，在一个实施例中，FISH）。与一些用于全面染色体筛查的替代技术不同，阵列CGH不需要事先测试亲本DNA，因此不需要提前计划和仔细安排。（Fertil Steril（R）2011; 95：953-8. (C)美国生殖医学会（American Society for Reproductive Medicine）
Objective: To validate and determine the best array-comparative genomic hybridization (aCGH; array-CGH) protocols for preimplantation genetic screening (PGS).Design: Embryos had one cell removed as a biopsy specimen and analyzed by one of two array-CGH protocols. Abnormal embryos were reanalyzed by fluorescence in situ hybridization (FISH).Setting: Reference laboratory.Patient(s): Patients donating embryos or undergoing PGS.Intervention(s): Embryo biopsy, array-CGH, FISH reanalysis.Main Outcome Measure(s): Diagnosis, no result rate and error rate.Result(s): Method one produced 11.2% of embryos with no results and a 9.1% error rate compared with 3% and 1.9% for method two, respectively. Thereafter, only method two was used clinically. The aneuploidy rate for cleavage-stage embryos was 63.2%, significantly increasing with maternal age. The chromosomes most involved in aneuploidy were 16, 22, 21, and 15. We report the first live births after array-CGH combined with single blastomere biopsy.Conclusion(s): Array-CGH is proved to be highly robust (2.9% no results) and specific (1.9% error rate) when applied to rapid (24-hour) analysis of single cells biopsied from cleavage-stage embryos. This comprehensive chromosome analysis technique is the first to be validated by reanalyzing the same embryos with another technique (e. g., FISH). Unlike some alternative techniques for comprehensive chromosome screening, array-CGH does not require prior testing of parental DNA and thus advance planning and careful scheduling are unnecessary. (Fertil Steril (R) 2011; 95: 953-8. (C) 2011 by American Society for Reproductive Medicine.)