CMA在胎儿神经系统异常产前诊断中的应用分析
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摘要
目的探讨染色体微阵列分析(CMA)在胎儿神经系统异常产前诊断中的应用。方法选取超声提示胎儿神经系统异常孕妇共121例,同时行染色体核型分析及CMA检测。结果检出11例胎儿染色体核型异常,检出率为9. 09%(11/121)。检出26例胎儿基因组拷贝数变异(CNVs),检出率为21. 49%(26/121),其中致病性CNVs 15例,检出率为12. 40%(15/121);临床意义不明的染色体拷贝数变异(VOUS) 11例,检出率为9. 09%(11/121)。结论在胎儿神经系统异常产前诊断中,尽管CMA检测存在临床意义不明病例,增加了遗传咨询的难度,但其能提高异常病例的检出率。
Objective To explore the application of chromosome microarray analysis(CMA) to prenatal diagnosis of fetal nervous system abnormalities.Methods A total of 121 pregnant women with fetal nervous system abnormalities diagnosed by ultrasonography were enrolled,concurrently,chromosome karyotype analysis and CMA detection were performed in the subjects.Results Eleven fetuses were found with chromosome karyotype anomaly,with a detection rate of 9.09%(11/121).Twenty-six fetuses were found with copy number variations(CNVs),with a detection rate of 21.49%(26/121),including 15 cases of pathogenic CNVs,with a detection rate of 12.40%(15/121),and11 cases of variants of unknown significance(VOUS),with a detection rate of 9.09%(11/121).Conclusion In prenatal diagnosis of fetal nervous system abnormalities,although CMA detection may increase the difficulty in genetic counseling for its presenting of unknown clinical significance cases,it can improve the detection rate of abnormal cases.
Objective To explore the application of chromosome microarray analysis(CMA) to prenatal diagnosis of fetal nervous system abnormalities.Methods A total of 121 pregnant women with fetal nervous system abnormalities diagnosed by ultrasonography were enrolled,concurrently,chromosome karyotype analysis and CMA detection were performed in the subjects.Results Eleven fetuses were found with chromosome karyotype anomaly,with a detection rate of 9.09%(11/121).Twenty-six fetuses were found with copy number variations(CNVs),with a detection rate of 21.49%(26/121),including 15 cases of pathogenic CNVs,with a detection rate of 12.40%(15/121),and11 cases of variants of unknown significance(VOUS),with a detection rate of 9.09%(11/121).Conclusion In prenatal diagnosis of fetal nervous system abnormalities,although CMA detection may increase the difficulty in genetic counseling for its presenting of unknown clinical significance cases,it can improve the detection rate of abnormal cases.
引文
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[5]Kearney HM,Thorland EC,Brown KK,et al.American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants[J].Genet Med,2011,13(7):680-685.
[6]蒋宇林,戚庆炜,孟华,等.308例高危妊娠产前诊断CMA技术发现不明确拷贝数变异的结果分析[J].生殖医学杂志,2017,26(9):863-868.
[7]夏秋玲,漆洪波.“2018年美国母胎医学会胎儿轻度侧脑室增宽诊断、评估、管理指南”解读[J].中国实用妇科与产科杂志,2018,34(11):1238-1242.
[8]刘洪倩,刘俊涛,邬玲仟.低深度全基因组测序技术在产前诊断中的应用专家共识[J].中华医学遗传学杂志,2019,36(4):293-296.
[2]Menasha J,Levy B,Hirschhorn K,et al.Incidence and spectrum of chromosome abnormalities in spontaneous abortions:new insights from a 12-year study[J].Genet Med,2005,7(4):251-263.
[3]Wapner RJ,Martin CL,Levy B,et al.Chromosomal microarray versus karyotyping for prenatal diagnosis[J].N Engl J Med,2012,367(23):2175-2184.
[4]Conlin LK,Thiel BD,Bonnemann CG,et al.Mechanisms of mosaicism,chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis[J].Hum Mol Genet,2010,19(7):1263-1275.
[5]Kearney HM,Thorland EC,Brown KK,et al.American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants[J].Genet Med,2011,13(7):680-685.
[6]蒋宇林,戚庆炜,孟华,等.308例高危妊娠产前诊断CMA技术发现不明确拷贝数变异的结果分析[J].生殖医学杂志,2017,26(9):863-868.
[7]夏秋玲,漆洪波.“2018年美国母胎医学会胎儿轻度侧脑室增宽诊断、评估、管理指南”解读[J].中国实用妇科与产科杂志,2018,34(11):1238-1242.
[8]刘洪倩,刘俊涛,邬玲仟.低深度全基因组测序技术在产前诊断中的应用专家共识[J].中华医学遗传学杂志,2019,36(4):293-296.