High-resolution array genomic hybridization in prenatal diagnosis
High-resolution array genomic hybridization in prenatal diagnosis
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DOI：
10.1002/pd.2129
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发表时间：
2009-01-01
影响因子：
3
通讯作者：
Friedman, J. M.
中科院分区：
文献类型：
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作者：
Friedman, J. M.
阵列基因组杂交（AGH）可以检测染色体的增益或损失是100倍，比那些可识别的常规细胞遗传学方法。全基因组AGH可以识别基因组失衡，导致出生缺陷和精神发育迟滞的频率至少是传统细胞遗传学分析的两倍。使用AGH作为胎儿基因组失衡的产前检测提供了比现有方法更快和更频繁地检测致病性基因组物质获得或丢失的希望。然而，发现临床意义不确定的结果的机会比常规细胞遗传学分析要大得多，并且在唐氏综合征高危妊娠中除了常规细胞遗传学分析外还进行AGH的效益成本比可能很差。目前对大多数致病性亚显微拷贝数变异体（CNVs）的自然史和临床变异范围知之甚少。在大多数情况下，由于风险和益处尚不清楚，因此患者是否能得到充分的产前AGH检测咨询似乎值得怀疑。目前，只有当妊娠具有特别高的致病性CNV风险或AGH作为临床试验的一部分时，才应提供AGH进行产前诊断。版权所有（C）2008约翰威利父子有限公司
Array genomic hybridization (AGH) can detect chromosomal gains or losses that are 100 times smaller than those identifiable by conventional cytogenetic methods. Genome-wide AGH can identify genomic imbalance that causes birth defects and mental retardation at least twice as frequently as conventional cytogenetic analysis. Using AGH as a prenatal test for fetal genomic imbalance offers the promise of detecting pathogenic gain or loss of genomic material more quickly and much more frequently than current methods. However, the chance of finding a result of uncertain clinical significance is much greater than with conventional cytogenetic analysis, and the benefit-cost ratio of doing AGH in addition to conventional cytogenetic analysis in pregnancies at high risk for Down syndrome is likely to be poor. Very little is known about the natural history and range of clinical variability associated with most pathogenic submicroscopic copy number variants (CNVs). It seems doubtful that patients can be adequately counseled for prenatal AGH testing in most cases because the risks and benefits are unknown. At present, AGH should be offered for prenatal diagnosis only if the pregnancy is at especially high risk of having a pathogenic CNV or if AGH is being done as part of a clinical trial. Copyright (C) 2008 John Wiley & Sons, Ltd.