Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases.
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases.
复制标题
DOI：
10.1186/1755-8166-4-12
复制
发表时间：
2011-05-09
影响因子：
1.3
通讯作者：
Kang HY
中科院分区：
文献类型：
--
作者：
Park SJ;Jung EH;Ryu RS;Kang HW;Ko JM;Kim HJ;Cheon CK;Hwang SH;Kang HY
阵列比较基因组杂交(CGH)是目前检测出生前和出生后临床病例中染色体改变的最有效的方法。在这项研究中，我们开发了一个基于BAC的阵列CGH分析平台，用于检测包括特定微缺失和复制染色体疾病在内的全基因组DNA拷贝数变化。此外，我们还报告了我们的阵列计算全息分析平台的临床实施经验。对5080例来自不同临床表型的患者的出生前和出生后的临床样本进行了阵列CGH。对4073例产前标本(羊水标本4033例，绒毛标本40例)和出生后标本1007例(外周血407例，脐带血600例)的芯片CGH、染色体核型和荧光原位杂交结果进行了分析。在75例DNA拷贝数变异阳性的产前病例中，60例为非整倍体，7例为缺失，8例为重复。在39例阳性的出生后样本中，5例为非整倍体，23例为缺失，11例为重复。这项研究证明了我们新开发的全基因组阵列CGH作为第一级检测的实用性，在5080例出生前和出生后。阵列CGH增强了在具有不同临床特征的患者中检测节段缺失和重复的能力，并正在成为产前和产后诊断的更强大的工具。
Array comparative genomic hybridization (CGH) is currently the most powerful method for detecting chromosomal alterations in pre and postnatal clinical cases. In this study, we developed a BAC based array CGH analysis platform for detecting whole genome DNA copy number changes including specific micro deletion and duplication chromosomal disorders. Additionally, we report our experience with the clinical implementation of our array CGH analysis platform. Array CGH was performed on 5080 pre and postnatal clinical samples from patients referred with a variety of clinical phenotypes. A total of 4073 prenatal cases (4033 amniotic fluid and 40 chorionic villi specimens) and 1007 postnatal cases (407 peripheral blood and 600 cord blood) were studied with complete concordance between array CGH, karyotype and fluorescence in situ hybridization results. Among 75 positive prenatal cases with DNA copy number variations, 60 had an aneuploidy, seven had a deletion, and eight had a duplication. Among 39 positive postnatal cases samples, five had an aneuploidy, 23 had a deletion, and 11 had a duplication. This study demonstrates the utility of using our newly developed whole-genome array CGH as first-tier test in 5080 pre and postnatal cases. Array CGH has increased the ability to detect segmental deletion and duplication in patients with variable clinical features and is becoming a more powerful tool in pre and postnatal diagnostics.
登录
查看更多内容
DOI：
10.1097/gim.0b013e3181f8baad
发表时间：
2010-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Manning M;Hudgins L;Professional Practice and Guidelines Committee
通讯作者：
Professional Practice and Guidelines Committee
染色体微阵列分析的临床实施：2513例产后病例的摘要。
影响因子：
3.7
作者：
Lu, Xinyan;Shaw, Chad A.;Patel, Ankita;Li, Jiangzhen;Cooper, M. Lance;Wells, William R.;Sullivan, Cathy M.;Sahoo, Trilochan;Yatsenko, Svetlana A.;Bacino, Carlos A.;Stankiewicz, Pawel;Ou, Zhishu;Chinault, A. Craig;Beaudet, Arthur L.;Lupski, James R.;Cheung, Sau W.;Ward, Patricia A.
通讯作者：
Ward, Patricia A.
影响因子：
8.8
作者：
Shaffer, LG
通讯作者：
Shaffer, LG
影响因子：
8.8
作者：
Cheung, SW;Shaw, CA;Beaudet, AL
通讯作者：
Beaudet, AL
影响因子：
5.2
作者：
Crolla, JA;Youings, SA;Jacobs, PA
通讯作者：
Jacobs, PA