Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
复制标题
DOI：
10.1002/pd.3943
复制
发表时间：
2012-10
影响因子：
3
通讯作者：
Fisher, Allan J.
中科院分区：
文献类型：
--
作者：
Shaffer, Lisa G.;Rosenfeld, Jill A.;Dabell, Mindy P.;Coppinger, Justine;Bandholz, Anne M.;Ellison, Jayw.;Ravnan, J. Britt;Torchia, Beth S.;Ballif, Blake C.;Fisher, Allan J.
关键词：
本研究的目的是了解比较基因组杂交（CGH）为基础的微阵列的诊断工具与异常超声检查结果的妊娠。我们进行了一项回顾性分析，2858例妊娠与异常超声和正常核型（当进行）测试，在我们的实验室使用CGH微阵列针对已知的染色体综合征与后来的版本提供骨干覆盖整个基因组。根据器官系统受累对流产进行分层。计算这些类别中具有临床意义结果的检出率。在具有单一超声异常（n = 99/1773，5.6%）、两个或多个器官系统异常（n = 77/808，9.5%）、孤立性生长异常（n = 2/76，2.6%）和软标记物（n = 2/77，2.6%）的病例中确定了具有临床意义的基因组改变。以下异常单独或与其他异常一起具有特别高的检出率：全前脑（n = 9/85，10.6%），后颅窝缺损（n = 21/144，14.6%），骨骼异常（n = 15/140，10.7%）、室间隔缺损（n = 14/132，10.6%）、左心发育不良（n = 11/68，16.2%）和唇腭裂（n = 14/136，10.3%）。微阵列分析发现，6.5%的病例有一个或多个异常超声结果的临床显着的基因组改变，大多数低于核型分析的分辨率。这样的较大数据集允许通过特定异常进行子分层，以确定通过微阵列分析可检测的基因组改变的风险。© 2012约翰威利父子有限公司.
The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings. We performed a retrospective analysis of 2858 pregnancies with abnormal ultrasounds and normal karyotypes (when performed) tested in our laboratory using CGH microarrays targeted to known chromosomal syndromes with later versions providing backbone coverage of the entire genome. Abnormalities were stratified according to organ system involvement. Detection rates for clinically significant findings among these categories were calculated. Clinically significant genomic alterations were identified in cases with a single ultrasound anomaly (n = 99/1773, 5.6%), anomalies in two or more organ systems (n = 77/808, 9.5%), isolated growth abnormalities (n = 2/76, 2.6%), and soft markers (n = 2/77, 2.6%). The following anomalies in isolation or with additional anomalies had particularly high detection rates: holoprosencephaly (n = 9/85, 10.6%), posterior fossa defects (n = 21/144, 14.6%), skeletal anomalies (n = 15/140, 10.7%), ventricular septal defect (n = 14/132, 10.6%), hypoplastic left heart (n = 11/68, 16.2%), and cleft lip/palate (n = 14/136, 10.3%). Microarray analysis identified clinically significant genomic alterations in 6.5% of cases with one or more abnormal ultrasound findings; the majority were below the resolution of karyotyping. Larger data sets such as this allow for sub-stratification by specific anomalies to determine risks for genomic alterations detectable by microarray analysis. © 2012 John Wiley & Sons, Ltd.
登录
查看更多内容
影响因子：
1.3
作者：
Park SJ;Jung EH;Ryu RS;Kang HW;Ko JM;Kim HJ;Cheon CK;Hwang SH;Kang HY
通讯作者：
Kang HY
影响因子：
3
作者：
Maya, Idit;Davidov, Bella;Shohat, Mordechai
通讯作者：
Shohat, Mordechai
影响因子：
3
作者：
Coppinger, Justine;Alliman, Sarah;Shaffer, Lisa G.
通讯作者：
Shaffer, Lisa G.
影响因子：
5.3
作者：
Armengol L;Nevado J;Serra-Juhé C;Plaja A;Mediano C;García-Santiago FA;García-Aragonés M;Villa O;Mansilla E;Preciado C;Fernández L;Ángeles Mori M;García-Pérez L;Lapunzina PD;Pérez-Jurado LA
通讯作者：
Pérez-Jurado LA
影响因子：
3
作者：
Staebler, M;Donner, C;Avni, F
通讯作者：
Avni, F