Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
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DOI：
10.1002/pd.2371
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发表时间：
2009-12-01
影响因子：
3
通讯作者：
Shaffer, Lisa G.
中科院分区：
文献类型：
--
作者：
Coppinger, Justine;Alliman, Sarah;Shaffer, Lisa G.
目的 确定全基因组微阵列技术与靶向微阵列分析在提交诊断检测的产前样本中染色体异常的检出率。方法使用基于全基因组细菌人工染色体 (BAC) 和寡核苷酸 (oligo) 的微阵列或靶向 BAC 微阵列进行微阵列分析 182 和 产前病例62例。分别。来自北美医疗保健提供者 先前没有已知的染色体异常或已知染色体重排的父母的家族史。结果 微阵列分析在 182 个产前样本中发现了 7 个 (3.8%) 具有临床意义的染色体改变，其中两个样本各有两个不相关的异常。排除其中两例通过常规核型分析可发现异常的病例后，具有临床意义的发现的诊断率为 182 例中的 5 例 (2.7%)。 1 例发现意义不明 (0.5%)，16 例发现良性拷贝数变异 (CNV) (8.8%)。靶向微阵列分析结合之前发表的数据表明，临床显着结果的检出率为 0.9%，意义不明结果的检出率为 0.5%，良性 CNV 的检出率为 8.0%。 与靶向 aCGH 相比，结果不明确或良性 CNV。版权所有 (C) 2009 John Wiley & Sons, Ltd.
Objective To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing.Methods Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleotide (oligo)-based microarrays or targeted BAC microarrays was performed oil 182 and 62 prenatal cases. respectively. from North American healthcare providers Without previously known chromosome abnormalities or family history of a parent with a known chromosome rearrangement.Results Microarray analysis identified clinically significant chromosome alterations in 7 out of 182 (3.8%) prenatal specimens, two of which each had two unrelated abnormalities. After excluding two of the cases in which the abnormality Would have been identified by routine karyotyping, the diagnostic yield of clinically significant findings was 5 Out of 182 (2.7%). One case had a finding Of unclear significance (0.5%) and 16 cases had benign copy number variants (CNVs) (8.8%). Targeted microarray analysis combined with previously published data demonstrated detection rates of 0.9% for clinically significant results, 0.5% For results of unclear significance, and 8.0% for benign CNVs.Conclusions Whole-genome prenatal aCGH detected clinically significant submicroscopic chromosome abnormalities in addition to chromosome abnormalities that could be identified by concurrent karyotyping-without ail increase in unclear results or benign CNVs compared to targeted aCGH. Copyright (C) 2009 John Wiley & Sons, Ltd.