微阵列比较基因组杂交在胎儿发育异常中的应用

摘要

Objective To explore the genetic etiology for fetuses featuring intrauterine growth anomalies using array-based comparative genomic hybridization (aCGH).Methods Forty nine fetuses were enrolled in this study.Genomic DNA of the abortive tissues was analyzed with aCGH.Results Fourteen (28.6 ％) samples were found with chromosomal aberrations,which included 8 chromosomal aneuploidies and 6 micro aberrations (4 with known clinical pathogenecity and 2 with unknown clinical significance).Conclusion Numerical and structural chromosomal aberrations underlie a significant proportion of fetal growth anomalies.aCGH has provided an effective method for delineating their genetic cause.%目的 应用微阵列比较基因组杂交技术(array-based comparative genomic hybridization,aCGH)探讨胎儿宫内发育异常的遗传学病因.方法 对49例宫内发育异常胎儿的引产物基因组DNA进行aCGH分析.结果 发现其中14例(28.6％)存在染色体异常,包括8例染色体数目异常,6例染色体微小畸变(4例有明确致病性,2例临床意义不明).结论 染色体数目及结构异常是导致胎儿发育异常的重要原因,应用aCGH技术可以明确一定比例胎儿发育异常的原因.