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(χ~2=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:高龄孕妇羊水染色体异常检出率较高,当合并不同高危因素时染色体异常检出率具有明显差异。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。
Objective: To investigate the detection rates of chromosomal abnormalities and copy number variations in the fetuses of pregnant women with advanced maternal age in the second trimester,and to analyze the application value of chromosome microarray technique in the prenatal diagnosis of pregnant women with advanced maternal 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 performed 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 chromosomal abnormalities in 159 women,with a detection rate of chromosomal abnormalities of 11.91%(159/1 335). The analysis 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 women with advanced maternal age and high risk in noninvasive prenatal testing or two or more high-risk factors. Besides,CMA was performed for 207 pregnant women with advanced maternal age,and the results showed that compared with karyotype analysis,CMA identified 3 additional cases of pathogenic copy number variations,while compared with CMA,karyotype analysis detected 2 additional cases of chromosomal balanced translocation. Conclusion: There is a relatively high detection rate of chromosomal abnormalities in pregnant women with advanced maternal age,and there is a significant difference in the detection rate of chromosomal abnormalities between pregnant women with different high-risk factors. In addition,CMA can improve the detection rate of fetal chromosomal abnormalities in pregnant women with advanced maternal age and is thus recommended for fetal genetic analysis.
作者
张娜
颜梅珍
王元白
江矞颖
庄建龙
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)
出处
《西南医科大学学报》
2021年第2期144-149,共6页
Journal of Southwest Medical University
基金
福建省卫生健康委科技计划项目(2020QNB045)
泉州市科技计划项目(2019N050s,2020C026R)。
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
Advanced maternal age
Karyotype analysis
Polymorphism,single nucleotide
Copy number vari⁃ation
Prenatal diagnosis
