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OA
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
目的 探讨染色体核型分析、单核苷酸多态性微阵列分析(SNP-array)技术应用在唐氏筛查高风险孕妇的产前诊断中的价值,为产前诊断指征的把控、检测前遗传咨询工作提供数据支持.方法 回顾性分析2018年6 月至 2024 年 8 月在临沂市中心医院产前诊断中心因唐氏筛查高风险接受羊水穿刺的 970 例单胎孕妇样本的染色体核型分析及SNP-array检测结果,并比较两种技术的检出率.结果 SNP-array检测:共检出异常结果 148 例(15.26%),目标疾病(18/21-三体综合征)检出 23 例(2.37%),非目标疾病检出 59 例(6.08%)(排除临床意义未明 66 例).染色体核型分析检测:染色体异常 54 例(5.58%),目标疾病(18/21-三体综合征)检出 23 例(2.38%),非目标疾病检出 26 例(2.69%)(排除染色体多态性 5 例).SNP-array与染色体核型分析对目标疾病的检出率比较,差异无统计学意义(2.37%vs.2.38%,P=0.994),但SNP-array对非目标疾病的检出率更高,差异有统计学意义(6.08%vs.2.69%,P<0.001).与单用染色体核型分析比较,联合检测显著提高阳性检出率(P<0.001).结论 对于唐氏筛查高风险孕妇,SNP-array可以显著提高阳性诊断率,弥补了染色体核型分析不能检测<10 Mb的拷贝数变异和单亲二体疾病的不足,且两种技术联合应用能进一步提高染色体异常的检出率.
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.
马玉霞;赵开美;张换;南连玲;肖莺
山东省临沂市中心医院产前诊断中心,山东 临沂 276400山东省临沂市中心医院产前诊断中心,山东 临沂 276400山东省临沂市中心医院超声科,山东 临沂 276400山东省临沂市中心医院产前诊断中心,山东 临沂 276400山东省临沂市中心医院检验科,山东 临沂 276400
医药卫生
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
Down syndrome screeningChromosomal karyotype analysisSingle nucleotide polymorphism arrayPrenatal diagnosisCopy number variations
《中国医药科学》 2025 (10)
80-85,6
山东省临沂市医药卫生科技项目(202432).
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