分类号：R714.55
出版年·卷·期（页码）：2019·11·第2期（46-49）
DOI:
10.13470/j.cnki.cjpd.2019.02.011
-----摘要：-------------------------------------------------------------------------------------------
目的 探索染色体拷贝数变异（copy number variants ，CNV）在高龄孕妇羊水标本中的发生率以及其类型分布。方法 收集单纯因高龄因素行羊膜腔穿刺术进行产前诊断的孕妇羊水标本213例。同时进行羊水染色体核型分析和染色体微阵列分析，统计在羊水染色体核型分析正常的高龄孕妇中CNV的发生率和类型。结果 213例羊水标本中，染色体核型分析和染色体微阵列分析同时发现异常的有5例。在208例染色体核型分析结果正常的羊水标本中，染色体微阵列分析技术共检出8例异常，其中4例为具有临床意义的CNV，占比约1.9%，高于小于35岁孕妇人群中唐氏综合征的发病率；另外4例为临床意义未明CNV，占比约1.9%。结论 由于CNV的发生率与孕妇年龄无相关性，因此高龄孕妇中CNV的发生率和类型可以反映出普通低危妊娠人群CNV的发生率和类型。对超声结构正常而行有创产前诊断的孕妇人群中，在排除了常见的非整倍体异常后也应建议进一步进行CMA分析排除致病性CNV。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To investigate the frequency and classification of copy number variants in pregnancies with advanced maternal age。Methods A total of 213 prenatal amniotic fluid samples from pregnancies with advanced maternal age were processed in parallel using both whole-genome CMA and conventional karyotyping. The frequency and classification of copy number variants were calculated in the samples with normal karyotype. Results Of the 213 samples, 5 abnormalities were found simultaneously by CMA and conventional karyotyping. Of the 208 samples with normal karyotype, 8 abnormalities were detected by CMA including 4 abnormalities with clinically significant and 4 variants of uncertain significance. The incidence of clinically significant variants and uncertain significance variants were 1.9%. The incidence was higher than Down syndrome in pregnant women younger than 35 years old. Conclusions Copy number variants of well-defined clinical significance are not associated with maternal age. So, the incidence of clinically significant variants in pregnancies with advanced maternal age can represent the background risk for clinically significant CNVs in uneventful pregnancies. All women having invasive testing without fetal ultrasound abnormality can be offered microarray as an option after exclusion of aneuploidy abnormality.
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吴晓霞,刘洋,谢建生.高龄孕妇人群中CNV发生率及类型分析.中国产前诊断杂志,2019,11(2):46-49.
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