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. 2011 Mar;204(3):205.e1-11.
doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.

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

Mathias Ehrich  1 , Cosmin Deciu, Tricia Zwiefelhofer, John A Tynan, Lesley Cagasan, Roger Tim, Vivian Lu, Ron McCullough, Erin McCarthy, Anders O H Nygren, Jarrod Dean, Lin Tang, Don Hutchison, Tim Lu, Huiquan Wang, Vach Angkachatchai, Paul Oeth, Charles R Cantor, Allan Bombard, Dirk van den Boom
Affiliations

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

Mathias Ehrich et al. Am J Obstet Gynecol. 2011 Mar.

Abstract

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.

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