现代妇产科进展2017，Vol.26Issue(12)：917-920,4.DOI:10.13283/j.cnki.xdfckjz.2017.12.037
孕妇外周血胎儿游离DNA无创产前检测应用价值探讨
Application of non-invasive prenatal detection of fetal free DNA in peripheral blood of pregnant women.
朱赛娟 1张月萍 1伍俊萍 1雷彩霞 1孙海燕 1吴佳龙 1徐建忠 1周静1
作者信息
- 1. 复旦大学附属妇产科医院集爱遗传与不育诊断中心,上海 200011
- 折叠
摘要
Abstract
Objective:To study the accuracy of non invasive prenatal testing (NIPT) for fetal aneuploidy screening. Methods:From Aug. 2013 to Feb. 2017,800 pregnant women with NIPT results came to do amniocentesis examination,in which 557 cases were NIPT posi-tive,including 256 cases for high risk of trisomy 21,85 for trisomy 18,37 for trisomy 13,85 for sex chromosomal anueploidy and 94 for other chromosomal abnormalities. 243 cases were NIPT negative who require amniotic fluid puncture,including 183 cases with ultrasound screening of fetal structural abnormalities or soft markers,27 cases of elderly mother,7 cases with fetal ab-normalities,1 case with early pregnancy medication and 25 cases with no indications but strong-ly required by the pregnant women. NIPT tests were detected by 11 domestic hospitals or testing institutions. The chromosome karyotype analysis and chromosomal microarray analysis (Chromo-somal Microarray Analysis,CMA)were conducted for chromosomal analysis. Comparative analy-sis of invasive prenatal diagnosis and noninvasive NIPT results were made. Results:The positive predictive value of NIPT for trisomy 21,trisomy 18,trisomy 13 and sex chromosome were 81. 6% (209 / 256),68. 2% (58 / 85),8. 1% (3 / 37),and 41. 2% (35 / 85). The negative predictive value turned out to be 99. 6%(242 / 243)for trisomy 21 and 100% (243 / 243)fortrisomy 13,trisomy 18 and sex chromosome aneuploidy. The positive predictive value of NIPT for other autosomal aneuploidy was 1. 6%(1 / 61). The positive predictive value of NIPT for CNV was 54. 5% (18 / 33). Conclusion:The positive predictive value of the NIPT detection in the different hospitals and institutions is relatively low,the clinical application of NIPT should be supervised under strengthened regulations and rigorous control system.关键词
胎儿非整倍体筛查/NIPT/染色体核型分析/CMA染色体芯片分析Key words
Fetal aneuploidy screening/NIPT/Karyotype analysis/CMA chromosomal microarray analysis分类
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朱赛娟,张月萍,伍俊萍,雷彩霞,孙海燕,吴佳龙,徐建忠,周静..孕妇外周血胎儿游离DNA无创产前检测应用价值探讨[J].现代妇产科进展,2017,26(12):917-920,4.
