Array-CGH技术用于产前诊断可疑胎儿染色体异常

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

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。

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.