Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
作者： Mary E. Norton , Herb Brar , Jonathan Weiss , Ardeshir Karimi , Louise C. Laurent
DOI: 10.1016/J.AJOG.2012.05.021
关键词: Obstetrics 、 Gynecology 、 Prospective cohort study 、 Down syndrome 、 Prenatal diagnosis 、 Medicine 、 Cell-free fetal DNA 、 Risk assessment 、 Cohort study 、 Trisomy 、 Aneuploidy
摘要: OBJECTIVE: We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and 18 (T18). STUDY DESIGN: A multicenter cohort study was performed whereby cell-free DNA from maternal plasma analyzed. Chromosomeselective sequencing on chromosomes with reporting an aneuploidy risk (High Risk or Low Risk) each subject. RESULTS: Ofthe81T21cases,allwereclassifiedasHighRiskforT21 andtherewas1false-positiveresultamongthe2888normalcases,for asensitivityof100%(95%confidenceinterval[CI],95.5‐100%)anda false-positive rate 0.03% (95% CI, 0.002‐0.20%). Of the 38 T18 cases, 37 were classified as High there 2 results among 2888 normal sensitivity 97.4% 86.5‐99.9%) 0.07% 0.02‐0.25%). CONCLUSION: Chromosome-selective application individualized algorithm is effective in detection T21 T18.
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