Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
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DOI：
10.1002/pd.2127
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发表时间：
2009-01
影响因子：
3
通讯作者：
Beaudet, Arthur L.
中科院分区：
文献类型：
--
作者：
Van den Veyver, Ignatia B.;Patel, Ankita;Shaw, Chad A.;Pursley, Amber N.;Kang, Sung-Hae L.;Simovich, Marcia J.;Ward, Patricia A.;Darilek, Sandra;Johnson, Anthony;Neill, Sarah E.;Bi, Weimin;White, Lisa D.;Eng, Christine M.;Lupski, James R.;Cheung, Sau Wai;Beaudet, Arthur L.
关键词：
评价阵列比较基因组杂交（aCGH）在产前诊断中的应用，包括评估意义不确定的变异，以及检测核型未检测到的异常的能力，反之亦然。对接受子宫颈穿刺术或绒毛膜绒毛取样（CVS）进行核型分析的妇女，使用靶向微阵列进行aCGH分析。同时获得亲本样品以排除母体细胞污染，并确定拷贝数变异（CNV）是否是新生的，或在发布报告之前遗传的。我们分析了300个样本，大多数是羊水（82%）和CVS（17%）。最常见的适应症是高龄产妇（N = 123）和异常超声检查结果（N = 84）。共检测到58个CNVs（19.3%）。其中，40例（13.3%）被解释为可能是良性的，15例（5.0%）具有明确的病理学意义，而3例（1.0%）临床意义不确定。对于7例（约2.3%或1/43），aCGH提供了重要的新信息。对于其中2例（1%或约1/150），如果不进行aCGH分析，则无法检测到异常。虽然aCGH在13.3%的病例中检测到良性遗传变异，但这些并不存在重大的咨询困难，并且该程序是产前检测染色体异常的改进诊断工具。
To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa. Women undergoing amniocentesis or chorionic villus sampling (CVS) for karyotype were offered aCGH analysis using a targeted microarray. Parental samples were obtained concurrently to exclude maternal cell contamination and determine if copy number variants (CNVs) were de novo, or inherited prior to issuing a report. We analyzed 300 samples, most were amniotic fluid (82%) and CVS (17%). The most common indications were advanced maternal age (N = 123) and abnormal ultrasound findings (N = 84). We detected 58 CNVs (19.3%). Of these, 40 (13.3%) were interpreted as likely benign, 15 (5.0%) were of defined pathological significance, while 3 (1.0%) were of uncertain clinical significance. For seven (~2.3% or 1/43), aCGH contributed important new information. For two of these (1% or ~1/150), the abnormality would not have been detected without aCGH analysis. Although aCGH-detected benign inherited variants in 13.3% of cases, these did not present major counseling difficulties, and the procedure is an improved diagnostic tool for prenatal detection of chromosomal abnormalities.
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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：
9.8
作者：
Friedman, J. M.;Baross, Agnes;Marra, Marco A.
通讯作者：
Marra, Marco A.
影响因子：
4
作者：
Menten, B.;Maas, N.;Vermeesch, J. R.
通讯作者：
Vermeesch, J. R.
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