用染色体微阵列芯片检测四例羊水染色体异常的胎儿

Chromosome microarray analysis of four fetuses with abnormal karyotypes

目的通过分析4例羊水染色体核型异常胎儿的分子核型，探讨染色体微阵列芯片（chromosome microarray，CMA）对于鉴定胎儿染色体复杂重排的意义。方法常规检测胎儿双亲的染色体，并对4例核型异常但无法确定断裂点的胎儿DNA样本进行CMA扫描，用计算机软件分析结果。结果4例羊水细胞染色体核型异常胎儿中有3例双亲之一具有染色体异常，1例双亲染色体正常；4例胎儿CMA检测结果均显示有重复、缺失等基因组不平衡改变。结论CMA技术可为诊断染色体微缺失、微重复以及细胞遗传学无法确定断裂点和复杂核型等提供了高效实用的方法。

Objective To carry out chromosomal microarray analysis （CMA） on four fetuses with abnormal karyotypes. Methods Amniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints. Results Abnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases. Conclusion CMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.