Obstet Gynecol. 2009 Nov;114(5):1161-1163. doi: 10.1097/AOG.0b013e3181c33cad.
The widespread use of array comparative genomic hybridization (CGH)for the diagnosis of genomic rearrangements in children with idiopathic mental retardation,developmental delay, and multiple congenital anomalies has spurred interest in applying array CGH technology to prenatal diagnosis. The use of array CGH technology in prenatal diagnosis is currently limited by several factors, including the inability to detect balanced chromosomal rearrangements, the detection of copy number variations of uncertain clinical significance, and significantly higher costs than conventional karyotype analysis. Although array CGH has distinct advantages over classic cytogenetics in certain applications, the technology is not currently a replacement for classic cytogenetics in prenatal diagnosis.
Array comparative genomic hybridization (CGH) 的广泛应用，为特发性智力迟钝、发育迟缓及多发先天畸形患儿的基因组重排诊断提供了帮助，这也激发了人们将 array CGH 技术应用于产前诊断的兴趣。array CGH 技术在产前诊断中的应用目前受到多种因素的限制，包括无法检测平衡染色体重排、检测到的拷贝数变异具有不确定的临床意义、以及与传统核型分析相比成本显著增加等。虽然 array CGH 在某些应用中明显优于经典细胞遗传学，但该技术目前并不是产前诊断中经典细胞遗传学的替代方法。
