Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion.
Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion.
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DOI：
10.1186/1755-8166-5-33
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发表时间：
2012-07-16
影响因子：
1.3
通讯作者：
Liu J
中科院分区：
文献类型：
--
作者：
Gao J;Liu C;Yao F;Hao N;Zhou J;Zhou Q;Zhang L;Liu X;Bian X;Liu J
基于阵列的比较基因组杂交（aCGH）是一种检测亚显微缺失和重复的新技术，可以克服经典细胞遗传学分析的许多局限性。但其在自然流产中的临床应用尚需综合评价。我们用aCGH研究了100例自然流产患者的染色体不平衡，并与G显带核型分析和荧光原位杂交（FISH）结果进行了比较。通过定量荧光PCR验证不一致的结果。61例检出异常。aCGH的检出率（93.4%，57/61）高于传统核型分析（77%，47/61）和FISH（68.9%，42/61）。aCGH鉴定了传统核型分析和间期FISH分析报告的所有染色体异常，除了四个三倍体。它还检测到3个额外的非整倍体病例中的37个标本与“正常”的核型，一个嵌合体和10个异常的14个标本，未能在体外生长。aCGH分析规避了传统核型分析或FISH中的许多限制。aCGH在自然流产中的准确性和有效性突出了其未来的临床实用性。由于流产组织有可能被母体细胞污染，因此应降低aCGH的检测阈值，以避免假阴性。
Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis. However, its clinical use in spontaneous abortion needs comprehensive evaluation. We used aCGH to investigate chromosomal imbalances in 100 spontaneous abortions and compared the results with G-banding karyotyping and fluorescence in situ hybridization (FISH). Inconsistent results were verified by quantitative fluorescence PCR. Abnormalities were detected in 61 cases. aCGH achieved the highest detection rate (93.4%, 57/61) compared with traditional karyotyping (77%, 47/61) and FISH analysis (68.9%, 42/61). aCGH identified all chromosome abnormalities reported by traditional karyotyping and interphase FISH analysis, with the exception of four triploids. It also detected three additional aneuploidy cases in 37 specimens with ‘normal’ karyotypes, one mosaicism and 10 abnormalities in 14 specimens that failed to grow in vitro. aCGH analysis circumvents many limitations in traditional karyotyping or FISH. The accuracy and efficiency of aCGH in spontaneous abortions highlights its clinical usefulness for the future. As aborted tissues have the potential to be contaminated with maternal cells, the threshold value of detection in aCGH should be lowered to avoid false negatives.
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影响因子：
9.5
作者：
van de Wiel, Mark A.;Picard, Franck;Ylstra, Bauke
通讯作者：
Ylstra, Bauke
影响因子：
9.8
作者：
Miller, David T.;Adam, Margaret P.;Ledbetter, David H.
通讯作者：
Ledbetter, David H.
DOI：
10.1111/j.1447-0756.2004.00191.x
发表时间：
2004-06-01
影响因子：
1.6
作者：
Nagaishi, M;Yamamoto, T;Knops, J
通讯作者：
Knops, J
影响因子：
3
作者：
Benkhalifa, M;Kasakyan, S;Qumsiyeh, MB
通讯作者：
Qumsiyeh, MB
影响因子：
6.1
作者：
Greenwold, N;Jauniaux, E
通讯作者：
Jauniaux, E