中国医药科学2025，Vol.15Issue(10)：80-85,6.DOI:10.20116/j.issn2095-0616.2025.10.18
染色体核型分析联合单核苷酸多态性微阵列分析在唐氏筛查高风险孕妇产前诊断中的应用
The application of chromosome karyotype analysis combined with single nucleotide polymorphism array in prenatal diagnosis of pregnant women with high risk of down syndrome screening
摘要
Abstract
Objective To explore the value of chromosomal karyotype analysis and single nucleotide polymorphism array(SNP-array)technology application in prenatal diagnosis of pregnant women with high risk of Down syndrome screening,and to provide data support for the control of prenatal diagnostic indications and prenatal diagnosis work.Methods Retrospective chromosomal karyotype analysis and SNP-array detection results of 970 singleton pregnant women who underwent amniocentesis for Down syndrome screening high-risk in the prenatal diagnosis center of Linyi Central Hospital from June 2018 to August 2024,and compare the detection rates of the two technologies.Results SNP-array:A total of 148 cases(15.26%)were detected with abnormal results,23 cases(2.37%)with the target diseases(trisomy 18/21)and 59 cases(6.08%)with the non-target diseases(except for 66 cases with the variant of undcertain significance).Chromosomal karyotype analysis:chromosomal abnormalities were detected in 54 cases(5.58%),target diseases(18/21-trisomy)was detected in 23 cases(2.38%),and non-target diseases was detected in 26 cases(2.69%)(except for chromosomal polymorphisms in 5 cases).Comparison of the detection rate of target diseases between SNP-array and chromosomal karyotype analysis was not statistically significant(2.37%vs.2.38%,P=0.994),but SNP-array had a higher detection rate for non-target diseases,and the difference was statistically significant(6.08%vs.2.69%,P<0.001).Compared with chromosomal karyotype analysis alone,the combined test significantly increased the positive detection rate(P<0.001).Conclusion For pregnant women with high risk for Down syndrome screening,SNP-array significantly increased the positive diagnosis rate,compensating for the inability of chromosomal karyotype analysis to detect copy number variations less than 10 Mb and uniparental disomy,and the combination of the two techniques can further increase the detection rate of chromosomal abnormalities.关键词
唐氏筛查/染色体核型分析/单核苷酸多态性微阵列分析/产前诊断/拷贝数变异Key words
Down syndrome screening/Chromosomal karyotype analysis/Single nucleotide polymorphism array/Prenatal diagnosis/Copy number variations分类
医药卫生引用本文复制引用
马玉霞,赵开美,张换,南连玲,肖莺..染色体核型分析联合单核苷酸多态性微阵列分析在唐氏筛查高风险孕妇产前诊断中的应用[J].中国医药科学,2025,15(10):80-85,6.基金项目
山东省临沂市医药卫生科技项目(202432). （202432）
