【摘要】 目的探讨染色体微阵列分析(CMA)技术在胎儿生长受限(FGR)中的应用价值。方法选取2013年3月至2015年5月在中山大学附属第一医院胎儿医学中心以FGR为指征行产前诊断的95份病例进行回顾性分析,所有病例行传统染色体核型分析,68例行CMA检测。结果核型分析检测出8.42%(8/95)的异常,而CMA发现14.71%(10/68)的异常。在核型正常的FGR中,CMA额外检出8.33%的异常。CMA检测的异常包括2号染色体单亲二体和5q12.1、19p13.3p13.2和11p14.3等染色体微缺失/微重复。相关基因包括PMP22、ERCC8和C3。结论 CMA技术可以显著提高FGR遗传学病因的检出率。更多还原

【Abstract】 Objective To evaluate the contribution of chromosomal microarray analysis(CMA)in the prenatal diagnosis of fetal growth restriction(FGR).Method Ninety-five FGR cases between March2013 to May 2015 were retrospectively analyzed.All of cases were evaluated by traditional karyotype while68 cases were evaluated by CMA.Results Chromosomal aberrations were detected in 8.42% of the cases(8/95)by karyotype analysis,while in 14.71% of the cases(10/68)by CMA.In cases with normal karyotype,CMA identified significant abnormalities in 8.33% of FGR cases.The aberrations detected by CMA include uniparental disomy 2,microdeletions or microduplications of 5q12.1,19p13.3p13.2and11p14.3,containing PMP22,ERCC8 and C3gene.Conclusions CMA is an effective method for the genetic diagnosis of FGR.更多还原