Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting - 19/08/11
Reprints: Dirk van den Boom, DPhil, Sequenom Inc, 3595 John Hopkins Ct., San Diego, CA 92121Résumé |
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.
Le texte complet de cet article est disponible en PDF.Key words : circulating cell-free fetal DNA, massively parallel shotgun sequencing, maternal blood, NIPD, noninvasive prenatal diagnosis
Plan
| DISCLOSURE: All authors of this article are employees and shareholders of Sequenom, Inc. or its subsidiaries, and therefore, a potential conflict of interest exists. |
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| Cite this article as: Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e1-11. |
Vol 204 - N° 3
P. 205.e1-205.e11 - mars 2011 Retour au numéro
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