染色体核型分析结合array-CGH在韶关市产前诊断的应用

Clinical application of chromosomal karyotyping analysis and array-CGH for prenatal diagnosis in Shaoguan

目的:探讨染色体核型分析结合微阵列比较基因组杂交技术(array-CGH)在韶关市产前诊断的应用。方法:收集在我院产前诊断门诊就诊的孕妇,因高危因素抽取羊水、脐血或者绒毛进行染色体G显带核型分析和array-CGH检测。结果:在439例孕妇样本,均成功完成了array-CGH检测,异常者为60例,异常检出率为13.67%(60/439),其中,染色体数目异常为22例(5.01%),微缺失/微重复检出38例(8.66%)。在染色体核型分析结构异常的样本中,array-CGH检测出8例临床致病性CNVs,终止妊娠。在403例染色体核型分析正常者中,array-CGH检测出微缺失/微重复25例,异常检出率为6.20%(25/403),其中8例为临床致病性CNVs,除1例分娩外,其余7例终止妊娠。结论:染色体核型分析结合array-CGH技术应用于产前诊断,具有明显临床应用价值。

Objective To assess the value of chromosomal karyotyping and array-based comparative genomic hybridization(array-CGH)for prenatal diagnosis in Shaoguan.Methods The pregnant women were accepted prenatal diagnosis.The samples were cultured for routine G-banding karyotype analysis.Among these,All samples have further subjected to array-CGH analysis.Results Among the 439 fetuses,array-CGH has detected 60(13.67%)with chromosomal abnormalities.These included 22 numerical aberrations and 38 cases with a microdeletion or microduplication,which respectively accounted for 5.01%and 8.66%of all cases.Among fetuses with a abnormal karyotype,8 abnormal pathogenicities were detected by array-CGH.Among 403 fetuses with a normal karyotype,array-CGH has detected 25(6.20%)with a microdeletion or microduplication.Conclusion The clinical application value of Chromosomal Karyotyping Analysis and array-CGH for Prenatal diagnosis was useful in Shaoguan.