Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

被引：360

作者：

Ehrich, Mathias ^{[1
]}

Deciu, Cosmin ^{[2
]}

Zwiefelhofer, Tricia ^{[2
]}

Tynan, John A. ^{[2
]}

Cagasan, Lesley ^{[2
]}

Tim, Roger ^{[2
]}

Lu, Vivian ^{[2
]}

McCullough, Ron ^{[2
]}

McCarthy, Erin ^{[2
]}

Nygren, Anders O. H. ^{[2
]}

Dean, Jarrod ^{[2
]}

Tang, Lin ^{[2
]}

Hutchison, Don ^{[2
]}

Lu, Tim ^{[2
]}

Wang, Huiquan ^{[2
]}

Angkachatchai, Vach ^{[2
]}

Oeth, Paul ^{[2
]}

Cantor, Charles R. ^{[1
]}

Bombard, Allan ^{[1
]}

van den Boom, Dirk ^{[1
]}

机构：

[1] Sequenom Inc, San Diego, CA 92121 USA

[2] Sequenom Ctr Mol Med LLC, San Diego, CA USA

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2011年 / 204卷 / 03期

关键词：

circulating cell-free fetal DNA; massively parallel shotgun sequencing; maternal blood; NIPD; noninvasive prenatal diagnosis; PRENATAL-DIAGNOSIS; ANEUPLOIDY; PLASMA;

D O I：

10.1016/j.ajog.2010.12.060

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

OBJECTIVE: We sought to evaluate a multiplexed massively parallel shotgun sequencing assay for noninvasive trisomy 21 detection using circulating cell-free fetal DNA. STUDY DESIGN: Sample multiplexing and cost-optimized reagents were evaluated as improvements to a noninvasive fetal trisomy 21 detection assay. A total of 480 plasma samples from high-risk pregnant women were employed. RESULTS: In all, 480 prospectively collected samples were obtained from our third-party storage site; 13 of these were removed due to insufficient quantity or quality. Eighteen samples failed prespecified assay quality control parameters. In all, 449 samples remained: 39 trisomy 21 samples were correctly classified; 1 sample was misclassified as trisomy 21. The overall classification showed 100% sensitivity (95% confidence interval, 89-100%) and 99.7% specificity (95% confidence interval, 98.5-99.9%). CONCLUSION: Extending the scope of previous reports, this study demonstrates that plasma DNA sequencing is a viable method for noninvasive detection of fetal trisomy 21 and warrants clinical validation in a larger multicenter study.

引用

页数：11

共 31 条

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