Detection of trisomy 21 by sequencing of DNA in maternal blood

January 01, 0001

Detection of trisomy 21 by sequencing of DNA in maternal blood

The researchers sought to evaluate a multiplexed massively parallel shotgun sequencing assay for noninvasive trisomy 21 detection using circulating cell-free fetal DNA. Sample multiplexing and cost-optimized reagents were evaluated as improvements to a noninvasive fetal trisomy 21 detection assay. 449 plasma samples from high-risk pregnant women were employed.

39 trisomy 21 samples were correctly classified; 1 sample was misclassified as trisomy 21. The overall classification showed 100% sensitivity and 99.7% specificity.

The researchers concluded: "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."

Interesting sensitivity and specificity, but what to do with the information remains an issue.

For the full abstract, click here.

American Journal of Obstetrics and Gynecology 204(3):205.e1-205.e11, March 2011
© 2011 Mosby, Inc
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Mathias Ehrich, Cosmin Deciu, Tricia Zwiefelhofer et al. Correspondence to Dirk van den Boom:

Category: W. Pregnancy/Childbirth/Family Planning. Keywords: circulating cell-free fetal DNA, shotgun sequencing, maternal blood, NIPD, noninvasive prenatal diagnosis, diagnostic test research, journal watch.
Synopsis edited by Dr Stephen Wilkinson, Melbourne, Australia. Posted on Global Family Doctor 27 May 2011

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