染色体微阵列技术在肠管回声增强胎儿产前诊断中的价值

Value of chromosomal microarray analysis in prenatal diagnosis of the fetus with echogenic bowel

目的:探讨染色体微阵列分析,(Chromosomal Microarray Analysis,CMA)在肠管回声增强(echogenic fetal bowel,EB)胎儿产前诊断中应用价值。方法:回顾性分析2017年1月-2022年12月在福州市第一医院因孕中期超声诊断为胎儿EB选择介入性产前诊断的112例孕妇,比较肠管回声增强胎儿染色体微阵列分析和染色体核型分析染色体异常检出率。结果:98例EB胎儿核型分析,检出染色体异常8例,检出率为8.16%(8/98),其中染色体非整倍体4例,结构异常4例;CMA技术检出了核型分析发现的8例异常结果。核型分析无法明确的2号染色体片段,经CMA明确为2号染色体q32.1q33.1的重复。CMA同时额外检出了12例的CNVs,额外检出率9.8%(12/112),其中2例为致病性的CNVs。孤立型EB胎儿和非孤立型EB胎儿在致病性异常检出率分别为14.3%、7.2%,两组间的差异不具有统计学意义(P=0.313)。结论:CMA作为核型分析的补充可以明确染色体变异片段的大小和致病性,对于核型分析中不明片断可以通过CMA来明确变异的来源。CMA在胎儿EB的遗传学诊断及后续精确的预后评估和遗传咨询中具有重要应用价值。

Objective:To investigate the value of Chromosomal Microarray Analysis(CMA)in the prenatal diagnosis of echogenic fetal bowel(EB).Methods:Retrospective analysis of 112 pregnant women who chose interventional prenatal diagnosis for fetal EB due to midtrimester ultrasound diagnosis in Fuzhou First Hospital from December 2017-2022,Comparison of chromosomal microarray analysis and karyotype analysis for chromosomal abnormalities in fetuses with echogenic bowel.Results:98 cases ofEB fetal karyotype analysis,8 cases of chromosomal abnormalities were detected with a rate of 8.16%(8/98):Chromosome 2 fragment that could not be clarified by karyotype analysis was clarified by CMA as a duplication of chromosome 2q32.1 q33.1.The CMA also detected 12 additional cases of CNVs,an additional detection rate of9.8%(12/112),Two of these cases were pathogenic CNVs.Isolated EB fetuses and non-isolated EB fetuses had a detection rate of14.3%vs 7.2%for pathogenic abnormalities respectively The difference between the two groups was not statistically significant(p=0.313).Conclusion:CMA as a complement to karyotype analysis can clarify the size and pathogenicity of chromosomal variant fragments,For unknown fragments in karyotype analysis the source of the variation can be clarified by CMA.CMA has important applications in the genetic diagnosis offetal EB and subsequent accurate prognostic evaluation and genetic counseling.