Array—CGH技术用于产前诊断可疑胎儿染色体异常

目的探讨微阵列比较基因组杂交技术（array—based comparative genomic hybridization，array—CGH）在产前诊断胎儿染色体异常中的应用价值。方法产前诊断发现4例常规G显带染色体核型分析不能明确的胎儿染色体异常，按照标准的array—CGH操作分析对这些病例进行全基因组检测。结果通过array—CGH技术分析，明确了4例胎儿可疑染色体异常的诊断并且进行精确定位，1例染色体部分缺失，1例正常，1例染色体部分重复，1例不平衡易位。结论array—CGH技术对产前诊断胎儿染色体异常具有高分辨率，能够精确定位异常片段，明确胎儿预后，对产前诊断具有重要应用价值。

Use of array comparative genomic hybridization for prenatal diagnosis of fetuse with suspicious chromosome aberration.

Objective： To study array comparative genomic Hybridization （array- CGH） to the prenatal evaluation of fetal chromo-some aberrations. Methods ： Four pregnant women whose fetuses had unclear chromosome aberration by amnion karyotyes were recruited at the time of invasive procedure for array - CGH analysis. Results ： By using array - CGH, all the four cases were diagnosed precisely through identifying one deletion, one normal, one duplications and one unbalance chromosomes translocation. Conclusion： Array - CGH is an effective method for whole - gcnome identification of unbalanced chromosomal aberrations with high sensitivity and specifici- ty. It has a great value to investigate the correlations between chromosome aberration and fetal prognosis in prenatal diagnosis.