高龄孕妇羊水染色体核型分析及拷贝数变异分析

关键词 高龄；核型分析；多态性，单核苷酸；拷贝数变异；产前诊断
中图分类号 R715
文献标志码 A
doi：10.3969/j.issn.2096-3351.2021.02.010
Karyotype and copy number variation analyses of amniotic fluid cells in pregnant women with advanced maternal age
摘 要 目的：探讨孕中期高龄孕妇胎儿异常染色体及拷贝数变异检出情况，同时探讨染色体微阵列技术在高龄孕妇产前
诊断中的应用价值。方法：回顾性分析 2018 年 1 月至 2020 年 7 月泉州市妇幼保健院行产前诊断高龄孕妇的染色体核型及染色
体微阵列分析（chormosome microarray analysis，CMA）检测结果。结果：共 1 338 例高龄孕妇行羊水染色体核型分析，3 例培养失
败，1 335 例成功进行染色体核型分析，成功率约 99.76%。核型结果显示共检出染色体异常 159 例，染色体异常检出率为 11.91%
（159/1 335）。进一步分析高龄合并不同高危因素时染色体异常检出率显示，染色体异常检出率差异具有统计学意义（χ2=
323.113，P < 0.001），当高龄合并无创产前筛查（noninvasive prenatal testing，NIPT)高风险或两项及以上高危因素时，染色体异常
检出率最高。另外，共 207 例高龄孕妇同时行 CMA 检测，结果显示 CMA 检测较染色体核型分析额外检出 3 例致病性拷贝数变
异，核型分析较 CMA 检测多检出 2 例染色体平衡易位。结论：高龄明显差异。另外，CMA 检测技术能够提高高龄孕妇胎儿染色体异常检出率，建议用于胎儿基因分析。
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论著
西南医科大学学报 2021 年 第 44 卷 第 2 期 Journal of Southwest Medical University Vol.44 No.2 2021
高龄孕妇羊水染色体核型分析及拷贝数变异分析
张 娜，颜梅珍，王元白，江矞颖，庄建龙
（泉州市妇幼保健院·儿童医院产前诊断中心，福建泉州 362000）
ZHANG Na，YAN Meizhen，WANG Yuanbai，JIANG Yuying，ZHUANG Jianlong Department of Prenatal Diagnosis Center，Women’s and Children’s Hospital of Quanzhou，Quanzhou 362000， Fujian Province，China
Abstract Objective: To investigate the detection rates of chromosomal abnormalities and copy number varia⁃ tions in the fetuses of pregnant women with advanced maternal age in the second trimester，and to analyze the appli⁃ cation value of chromosome microarray technique in the prenatal diagnosis of pregnant women with advanced mater⁃ nal age. Methods: A retrospective analysis was performed for karyotype and chromosome microarray analysis (CMA) results of the pregnant women with advanced maternal age who underwent prenatal diagnosis in Quanzhou Maternal and Child Health Hospital from January 2018 to July 2020. Results: Karyotype analysis of amniotic fluid was per⁃ formed for 1 338 pregnant women with advanced maternal age，among whom 3 had failed cell culture and 1 335 had a successful karyotype analysis，with a success rate of 99.76%. The results of karyotype analysis showed chromosom⁃ al abnormalities in 159 women，with a detection rate of chromosomal abnormalities of 11.91% (159/1 335). The anal⁃ ysis of the detection rate of chromosomal abnormalities in pregnant women with advanced maternal age and other risk factors showed a significant difference in the detection rate of chromosomal abnormalities between groups (χ2 = 323.113，P < 0.001)，and the highest detection rate of chromosomal abnormalities was observed in the pregnant wom⁃ en with advanced maternal age and high risk in noninvasive prenatal testing or two or more high-risk factors. Be⁃ sides，CMA was performed for 207 pregnant women with advanced maternal age，and the results showed that com⁃