Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
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DOI：
10.1016/j.ajog.2012.05.021
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发表时间：
2012-08-01
影响因子：
9.8
通讯作者：
Song, Ken
中科院分区：
文献类型：
--
作者：
Norton, Mary E.;Brar, Herb;Song, Ken
目的：我们试图评估胎儿21三体（T21）和18三体（T18）的非侵入性产前检查的性能研究设计：一个多中心队列研究进行，其中从母体血浆中的游离DNA进行了分析。对21号和18号染色体进行了染色体选择性测序，并报告了非整倍体风险（高风险或低风险）。结果：在81例T21患者中，所有患者均被归类为T21高风险，在2888例正常患者中有1例假阳性结果，敏感性为100%（95%置信区间[CI]，95.5-100%），假阳性率为0.03%（95% CI，0.002-0.20%）。38例T18患者中，37例为高危型，2888例正常人中有2例假阳性，敏感性为97.4%（95% CI，86.5-99.9%），假阳性率为0.07%结论：游离DNA的染色体选择性测序和个体化风险算法的应用在胎儿T21和T18的检测中是有效的。
OBJECTIVE: We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18).STUDY DESIGN: A multicenter cohort study was performed whereby cell-free DNA from maternal plasma was analyzed. Chromosome-selective sequencing on chromosomes 21 and 18 was performed with reporting of an aneuploidy risk (High Risk or Low Risk) for each subject.RESULTS: Of the 81 T21 cases, all were classified as High Risk for T21 and there was 1 false-positive result among the 2888 normal cases, for a sensitivity of 100% (95% confidence interval [CI], 95.5-100%) and a false-positive rate of 0.03% (95% CI, 0.002-0.20%). Of the 38 T18 cases, 37 were classified as High Risk and there were 2 false-positive results among the 2888 normal cases, for a sensitivity of 97.4% (95% CI, 86.5-99.9%) and a false-positive rate of 0.07% (95% CI, 0.02-0.25%).CONCLUSION: Chromosome-selective sequencing of cell-free DNA and application of an individualized risk algorithm is effective in the detection of fetal T21 and T18.