Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
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DOI：
10.1002/pd.2626
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发表时间：
2010-12-01
影响因子：
3
通讯作者：
Shohat, Mordechai
中科院分区：
文献类型：
--
作者：
Maya, Idit;Davidov, Bella;Shohat, Mordechai
目的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。关于其在产前环境中使用的信息有限。方法回顾性分析2006 ~ 2009年269例产前aCGH的临床资料，包括超声检查胎儿异常（U/S）、高龄孕妇（AMA）、不明原因疾病家族史、父母的担忧、常规染色体核型异常和血清生化检查异常。11例aCGH正常。这使我们能够安抚家属，并继续怀孕。其余4例显示异常aCGH，证实染色体不平衡，并被终止。在254例染色体核型正常的病例中，3例aCCH异常，终止治疗。总的来说，新的临床相关结果检测aCGH在18例，提供额外的信息，产前遗传咨询和风险评估。结论我们的研究结果表明，产前aCGH应提供特别是在异常的U/S的情况下。我们发现，在低风险妊娠中，aCGH检测异常的比率为1：84，但需要更大规模的研究来扩展我们的知识并验证我们的结论。版权所有（C）2010约翰威利父子有限公司
Objective Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications. There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269 prenatal aCGHs between 2006 and 2009.Method The indications for testing were fetal anomalies on ultrasound (U/S), advanced maternal age (AMA), family history of a disorder of unknown etiology, parental concern, abnormal routine karyotype and abnormal serum biochemical screening for common fetal aneuploidies.Results Of 15 cases with a known abnormal karyotype, 11 had a normal aCGH. This enabled us to reassure the families and the pregnancies were continued. The remaining four showed an abnormal aCGH, confirming the chromosomes were unbalanced, and were terminated. Of 254 cases with a normal karyotype, 3 had an abnormal aCCH and were terminated. Overall, new clinically relevant results were detected by aCGH in 18 cases, providing additional information for prenatal genetic counseling and risk assessment.Conclusion Our results suggest that prenatal aCGH should be offered particularly in cases with abnormal U/S. We found the rate of detecting an abnormality by aCGH in low-risk pregnancies was 1 : 84, but larger studies will be needed to expand our knowledge and validate our conclusions. Copyright (C) 2010 John Wiley & Sons, Ltd.