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452例无创产前检测高风险胎儿的产前诊断结果分析 [中文引用][英文引用]

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分类号:R715.5
出版年·卷·期(页码):2019·11·第1期(11-15)
DOI: 10.13470/j.cnki.cjpd.2019.01.003
-----摘要:-------------------------------------------------------------------------------------------

目的 分析无创产前检测(non-invasive prenatal testing, NIPT)筛查胎儿21、18、13-三体及性染色体非整倍体(sex chromosome aneuploidy, SCA)的阳性预测值(positive predictive value, PPV),评估NIPT对胎儿常见染色体非整倍体检出的临床价值。方法 以羊水细胞核型分析作为产前诊断的金标准,分析2016年1月1日至2017年12月31日于潍坊市妇幼保健院就诊,NIPT提示高风险孕妇的产前诊断结果。结果 452例NIPT高风险孕妇,450例接受侵入性产前诊断,其中363例21、18、13-三体高风险孕妇,经羊水细胞染色体核型分析证实, 21-三体259例(PPV为90.88%)、18-三体44例(PPV为73.33%)、13-三体5例(PPV为27.78%);87例NIPT提示胎儿SCA孕妇接受侵入性产前诊断,确诊SCA胎儿56例,其中47,XXY 25例、47,XXX 14例、47,XYY 4例,嵌合体13例,假阳性31例,假阳性率为35.63%(31/87);NIPT对性染色体三体的PPV为82.86%,对性染色体单体的PPV为37.50%。结论 NIPT作为一种安全、快速的产前筛查手段,在筛查常见的21、18、13-三体的同时能够筛查出部分SCA患儿,但PPV偏低,必须进一步行侵入性产前诊断确诊;对NIPT提示胎儿SCA的孕妇有必要同时行孕妇本人的外周血染色体核型分析,以排除母体染色体异常。

-----英文摘要:---------------------------------------------------------------------------------------

Objective To assess the positive predictive value(PPV) and clinical meanings of non-invasive prenatal testing(NIPT) in screening fetal chromosome aneuploidy(SCA). Methods All pregnant women with high risks detected by NIPT were subjected to amniocytic karyotyping from January 1, 2016 to December 31, 2017, and the results of NIPT and karyotyping were reviewed to analyze. Results Among the 452 cases, 450 pregnant women proceeded with amniocentesis and fetal chromosomal detection. 363 women with high risk for trisomy 21, 18 and 13 were validated by karyotyping through invasive procedures, and PPV of NIPT for trisomy 21, 18 and 13 were 90.88%, 73.33% and 27.78%. 56 fetus were cytogenetically diagnosed as SCA from the 87 suspected cases, which included 25 fetus of 47,XXY, 14 fetus of 47,XXX, 4 fetus of 47,XYY and 13 chimeras. The PPV of NIPT for sex chromosome trisomy and monosomy X were 82.86% and 37.5%. Conclusions As a safe and rapid prenatal screening for trisomy 21,18 and 13, NIPT could also identify SCA,but with relatively low PPV, so the pregnant women with high risks must be validated by karyotyping. The karyotype analysis of peripheral blood chromosomes should be performed for the suspected SCA women detected by NIPT, in order to exclude maternal chromosome aberrations.

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中文著录格式: 路兴军,李晓东,张胜利,陶华娟,吉龙龙.452例无创产前检测高风险胎儿的产前诊断结果分析.中国产前诊断杂志,2019,11(1):11-15.

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