生长受限胎儿染色体微阵列结果分析 [中文引用][英文引用]

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。

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 March 2013 to May 2015 were retrospectively analyzed. All of cases were evaluated by traditional karyotype while 68 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, 19p13.3p13.2 and 11p14.3, containing PMP22, ERCC8 and C3 gene. Conclusions CMA is an effective method for the genetic diagnosis of FGR.