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无创产前检测在胎儿染色体异常疾病诊断中的应用

周舒香 刘妮 徐丽 杨一琼 陈玲 李靓

中国社区医师2016,Vol.32Issue(22):147-148,2.
中国社区医师2016,Vol.32Issue(22):147-148,2.DOI:10.3969/j.issn.1007-614x.2016.22.88

无创产前检测在胎儿染色体异常疾病诊断中的应用

Application of noninvasive prenatal detection in the diagnosis of fetal chromosomal abnormalities

周舒香 1刘妮 1徐丽 1杨一琼 1陈玲 1李靓1

作者信息

  • 1. 412000株洲市妇幼保健院遗传优生科
  • 折叠

摘要

Abstract

Objective:To explore the application of non-invasive prenatal DNA test in screening of fetal chromosomal abnormalities.Methods:The non-invasive prenatal DNA test was applied in 2 838 cases of pregnant women,and it was suggested that the positive object of chromosome abnormality would be further performed by amniotic fluid(or umbilical cord blood)puncture, fetal karyotype analysis.B ultrasound and follow-up after birth were carried out in the negative patients.Finally,the results of prenatal DNA sequencing,karyotype analysis and follow-up results were analyzed.Results:Detection of DNA sequencing in 2 838 pregnant women showed that:the coincidence rate of 21,18,13 chromosome abnormality,sex chromosome abnormality and other chromosome abnormality with the karyotype analysis was 81.25% ,53.85% and 0% respectively.In addition,the chromosomal abnormalities ratio detected by noninvasive DNA of pregnant women>40 years old increased significantly compared with pregnant women≤40 years old.Conclusion:Non invasive DNA detection in the detection of the three major chromosomal abnormalities has a high coincidence rate with the karyotype analysis,and it has the advantages of fast detection speed,no innovation,etc.

关键词

孕周/DNA/筛查

Key words

Gestational week/DNA/Screening

引用本文复制引用

周舒香,刘妮,徐丽,杨一琼,陈玲,李靓..无创产前检测在胎儿染色体异常疾病诊断中的应用[J].中国社区医师,2016,32(22):147-148,2.

中国社区医师

1007-614X

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