Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

被引：419

作者：

Norton, Mary E. ^{[1
]}

Brar, Herb ^{[2
]}

Weiss, Jonathan ^{[3
]}

Karimi, Ardeshir ^{[4
]}

Laurent, Louise C. ^{[5
]}

Caughey, Aaron B. ^{[10
]}

Rodriguez, M. Hellen ^{[6
]}

Williams, John, III ^{[7
]}

Mitchell, Michael E. ^{[12
]}

Adair, Charles D. ^{[13
]}

Lee, Hanmin ^{[8
]}

Jacobsson, Bo ^{[14
]}

Tomlinson, Mark W. ^{[11
]}

Oepkes, Dick ^{[15
]}

Hollemon, Desiree ^{[9
]}

Sparks, Andrew B. ^{[9
]}

Oliphant, Arnold ^{[9
]}

Song, Ken ^{[9
]}

机构：

[1] Stanford Univ, Lucile Packard Childrens Hosp, Dept Obstet & Gynecol, Stanford, CA 94305 USA

[2] Riverside Perinatal Diagnost Ctr, Riverside, CA USA

[3] E Bay Perinatal Med Associates, Oakland, CA USA

[4] Inst Prenatal Diag & Reprod Genet, San Gabriel, CA USA

[5] Univ Calif San Diego, Dept Obstet & Gynecol, San Diego, CA 92103 USA

[6] San Gabriel Valley Perinatal Med Grp, W Covina, CA USA

[7] Cedars Sinai Med Ctr, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

[8] Univ Calif San Francisco, Dept Surg, San Francisco, CA USA

[9] Ariosa Diagnost, San Jose, CA USA

[10] Oregon Hlth & Sci Univ, Dept Obstet & Gynecol, Portland, OR 97201 USA

[11] NW Perinatal Ctr, Portland, OR USA

[12] Med Coll Wisconsin, Dept Surg, Milwaukee, WI 53226 USA

[13] Univ Tennessee, Hlth Sci Ctr, Coll Med, Dept Obstet & Gynecol, Chattanooga, TN USA

[14] Sahlgrens Univ Hosp, Dept Obstet & Gynecol, Gothenburg, Sweden

[15] Leiden Univ, Med Ctr, Dept Obstet, Leiden, Netherlands

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2012年 / 207卷 / 02期

关键词：

aneuploidy detection; cell-free fetal DNA; Down syndrome; noninvasive prenatal diagnosis; trisomy; MATERNAL PLASMA; DOWN-SYNDROME; 1ST-TRIMESTER; DNA;

D O I：

10.1016/j.ajog.2012.05.021

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：137.e1 / 137.e8

页数：8

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