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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我们试图评估无创性产前测试的表现为胎儿21三体综合征(T21)和18三体综合征(T18)。进行多中心队列研究,从而从母体血浆游离DNA进行分析。与报告的非整倍体的风险(高风险或低风险)为每个主题进行染色体和21号染色体18选择性排序。81 T21的情况下,全部被列为高风险的T21并有1假阳性2888例正常之间,为100%(95%置信区间[CI],95.5-100%)和敏感性0.03%(95%CI,0.002-0.20%),假阳性率。38 T18案件中,37被列为高风险,有2888例正常2之间的假阳性结果,对于97.4%的敏感性(95%CI,86.5-99.9%)和0.07假阳性率%(95%CI,0.02〜0.25%)。染色体选择性的无细胞DNA和应用个性化的风险算法的排序是有效的胎儿T21和T18的检测。
Epistemonikos ID: a19b8697819e9e752071a2cc936639feae45925d
First added on: Jun 01, 2014
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