染色体微阵列分析技术在产前遗传性疾病诊断中价值研究.docVIP

染色体微阵列分析技术在产前遗传性疾病诊断中价值研究 　　[摘要] 目的 研究染色体微阵列分析技术在产前遗传性疾病诊断中的价值。 方法 回顾性分析我院研究资料，选择我院2015年9月～2017年3月152例产前遗传性疾病患者，并根据检测方法将?a前遗传性疾病患者分为两组。对照组76例患者实施荧光原位杂交技术检测，观察组76例患者实施染色体微阵列分析技术检测，将两组产前遗传性疾病患者的检测结果进行对比。 结果 观察组检测结果76例均取得成功，在24～48 h内取得结果，21三体、13三体、18三体、X、Y计数检测结果优于对照组（P0.05），观察组产前遗传性疾病患者的妊娠结局与对照组比较具有显著差异（P0.05）。 结论 染色体微阵列分析技术在产前遗传性疾病诊断中具有显著的应用价值，其染色体非整倍检出率高达100.00%，值得临床进一步应用。 　　[关键词] 染色体微阵列分析技术；产前遗传性疾病；诊断；价值 　　[中图分类号] R714.55 [文献标识码] A [文章编号] 1673-9701（2017）30-0001-03 　　[Abstract] Objective To study the value of chromosome microarray analysis in the diagnosis of prenatal genetic diseases. Methods The study data were retrospectively analyzed in our hospital. 152 patients with prenatal genetic diseases in our hospital were collected. The collection time was from September 2015 to March 2017. According to the detection method， the patients with prenatal genetic diseases were divided into two groups， 76 patients in the control group were given fluorescence in situ hybridization， and 76 patients in the observation group were given chromosome microarray analysis. The detection results of the patients with prenatal genetic disease were compared between the two groups. Results The detection results of 76 cases in the observation group were all successful， and the results were obtained in 24-48 hours. The detection results of 21 trisomy， 13 trisomy， 18 trisomy， X， Y counts were better than those in the control group（P0.05）. There was a significant difference in the pregnancy outcome between the control group and the observation group in the patients with prenatal genetic diseases（P0.05）. Conclusion Chromosome microarray analysis has a significant application value in the diagnosis of prenatal genetic diseases， and the detection rate of non-integer time chromosome is as high as 100.00%， which is worthy of further clinical application. 　　[Key words] Chromosome microarray analysis； Prenatal genetic diseases； Diagnosis； Value 　　产前遗传性疾病主要包括两种，如胎儿染色体病、线粒体病，其中染色体病主要是由于人体自身染色体结构异