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黎洛冰1,梁西岚1,聂俊玮2.无创DNA阳性结果的验证分析及临床意义[J].中国医药科学,2020,(1):248-251        基金项目:
无创DNA阳性结果的验证分析及临床意义
Validation analysis and clinical significance of non-invasive DNA positive results
  
DOI:
中文关键词:  无创 DNA;产前诊断;出生缺陷;染色体
英文关键词:Noninvasive DNA;Prenatal diagnosis;Birth defects;Chromosomes
作者单位
黎洛冰1,梁西岚1,聂俊玮2 1.广东省茂名市妇幼保健院产前诊断中心,广东茂名 525000;2.广东省茂名市妇幼保健院遗传优生中心,广东茂名 525000 
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中文摘要:
      [摘要] 目的 对比分析无创 DNA 产前检测阳性结果与产前诊断结果,为无创 DNA 临床应用提供临床应用依据。 方法 选取 2016 年 1 月~ 2018 年 3 月在茂名市产前诊断中心因无创 DNA 产前检测结果阳性的孕妇 86 例给予羊水或脐静脉穿刺进行核型分析,并对参与无创 DNA 产前检测结果阴性的孕妇 5008 例进行随访。观察无创 DNA 检测结果准确率、不同危险分析度孕妇检测结果的准确性。 结果 86 无创 DNA 阳性结果,经染色体核型分析验证,无创 DNA 检测准确率为 66.28%,其中 18 三体检测准确率为 100.00%,21 三体检测准确率为 82.93%,13 三体及性染色体异常的检测准确率分别为 66.67%、60%。高龄组、唐氏高风险组、其它高危因素组孕妇无创 DNA 阳性准确率分别为 62.86%、72.73%、65.52%,三组准确率比较,差异无统计学意义(P > 0.05),其余 5008 例无创 DNA 结果阴性者截止 2018 年 3 月经随访未发现有唐氏综合征患儿出生,其他先天性畸形 7 例,其中先天性心脏病 3 例,多指 / 趾 2 例,唇腭裂 2 例。所有胎儿均正常出生。 结论 无创 DNA 是产前筛查 21、18、13 三体综合征的有效方法,对于其它染色体异常也具有重要提示意义。但无创 DNA 存在假阳性,对于无创 DNA 检测结果阳性,建议进一步行介入性产前诊断确诊。
英文摘要:
      [Abstract] Objective To compare and analyze the positive results and prenatal prognostic diagnosis of noninvasive DNA prenatal detection so as to provide the basis for clinical application of noninvasive DNA. Methods A total of 86 pregnant women who were positive for non-invasive DNA prenatal testing at the Prenatal Diagnostic Center in Maoming from January 2016 to March 2018 were given amniocentesis or umbilical vein puncture for karyotype analysis.A total of 5008 pregnant women with negative results of noninvasive DNA prenatal testing were followed up.The accuracy of non-invasive DNA test results and accuracy of test results for pregnant women with different risk analysis were observed. Results The positive results of 86 cases of non-invasive DNA were verified by chromosome karyotype analysis,and the accuracy of non-invasive DNA detection was 66.28%.Among which, the detection accuracy of trisomy 18 was 100.00%,that of trisomy 21 was 82.93%,and that of trisomy 13 and sex chromosome abnormalities was 66.67% and 60%,respectively.The accuracy rates of non-invasive DNA positive results in pregnant women in the elderly group,Down’s high-risk group and Down’s critical risk group were 62.86%,72.73% and 65.52%,respectively. There was no statistically significant difference in the accuracy of the three groups (P > 0.05).In the remaining 5008 patients with negative non-invasive DNA results,no children with Down’s syndrome were born in the follow-up until March 2018.Other congenital malformations were found in 7 cases,including 3 cases of congenital heart disease,2 cases of multiple fingers and toes and 2 cases of cleft lip and palate.All fetuses are born normally.After amniocentesis, the amniotic fluid verification rates of T21,T18,T13,sex chromosome abnormalities and other conditions were respectively 84.62%,80.00%,66.67%,50.00% and 71.43% in patients with positive results of non-invasive DNA test. ConclusionNoninvasive DNA is an effective method for prenatal screening of trisomy 21,18 and 13 syndromes,which also has important implications for other chromosomal abnormalities.However,there is a false positive in non-invasive DNA.For non-invasive DNA test results,it is recommended to conduct further interventional prenatal diagnosis.
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关键词: 中国医药科学 中国医学 中国医学科学 中华医学 医学杂志 临床医学杂志 医学期刊 中国预防医学 中华预防医学 预防医学杂志 中国药学 药学杂志
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