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. 2012 May 29;7(5):e38154. doi: 10.1371/journal.pone.0038154

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Liao et al.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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In order to obtain a specificity of greater than 99%, the cutoffs for T21 differentiation were chosen at 3 standard deviations above and below the mean F-S ratio of the euploid group. The sensitivity for paternally- and maternally-derived T21 detection was investigated on different numbers of informative allelic counts on chr21 and chrRef, respectively, for a fractional fetal DNA concentration of 15% (A). Similar analysis was performed for a fractional fetal DNA concentration of 5% (B). (Ma-T21: maternally-derived T21. Pa-T21: paternally-derived T21. Sen=sensitivity. Fe%=fractional fetal DNA concentration. Info AC=informative allelic counts on each of chr21 and chrRef. Info SNP=informative SNPs on each of chr21 and chrRef. Seq depth=sequencing depth. Info AC=Info SNP×Seq depth).