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中文摘要：
目的对产前B超检测出现异常的胎儿应用基于芯片的微阵列比较基因组杂交（aCGH）技术检测其遗传物质的变异,该研究中检测的是染色体较大片段的重复。方法通过超声波对胎儿进行健康状况的检测与分析,对检测出的1例异常胎儿进行羊膜腔穿刺获取胎儿脱落细胞样本,进一步利用aCGH技术对提取的样本DNA进行全基因组高分辨率扫描,检测并判断导致胎儿异常的遗传物质变异,并进行相关疾病的预测。结果 aCGH扫描检测出在该胎儿染色体13q22.2q34区带存在大小为38.51M的重复[（76,432,267~114,946,264）×3]。通过数据库及文献的检索发现该重复可能与13号染色体三体征前脑无裂畸形、膈疝等疾病相关。结论利用aCGH技术可以方便快速地鉴定和分析染色体重复的变异,也能高效地对染色体重复片段进行定位,该技术的广泛使用有助于对染色体遗传物质变异引起的疾病进行快速产前诊断以及一些复杂疾病的早发现。
英文摘要：
[Objective] To apply the array comparative genomic hybridization （aCGH） technology to the diagnosis of large chromosome fragment repetition of fetus with prenatal ultrasonic abnormity. [Methods] The fetus health condition was checked and analyzed by ultrasonic testing, and fetal exfoliated cell samples were obtained by amniocentesis. Subsequently, genome-wide high resolution scanning results of the samples were obtained through aCGH, and further diagnosis and prediction of related diseases were made. [Results] aCGH revealed that there was 38.51 M chromosome fragment repetition on 13q22.2q34 in the fetus. [（from 76, 432, 267 to 114, 946, 264）×3]. Database and literature retrieval revealed this chromosome fragment repetition may be related to trisomy of chromosome 13. [Conclusion] The technology of aCGH can be used for convenient and rapid identification and analysis of chromosome fragment repetition, and also for defining the loci of the chromosome fragment repetition. The widespread use of this technology is helpful to rapid prenatal diagnosis of diseases caused by chromosome mutation and early detection of complex diseases.
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