Average NIPT Patient Demographics (n = 100,000).

<p>Gestational age was determined by LMP or ultrasound. Maternal height and weight are not required for testing and not provided for all samples, n = 86,734.</p><p>Average NIPT Patient Demographics (n = 100,000).</p

Breakdown of the NIPT Final Results.

<p>Trisomy 13 and 18 began reporting in February 2012.</p><p>Breakdown of the NIPT Final Results.</p

NIPT Laboratory Performance.

<p>The table shows key laboratory performance indicators. Business days are defined as Monday through Friday excluding federal holidays. Canceled tests are samples that are inappropriate for testing primarily those with no indication for testing. Amended reports primarily include reports amended for typographical errors.</p><p>NIPT Laboratory Performance.</p

NIPT T21 Modeled Performance at Low Fetal Fractions.

<p>In figure, 27,824 samples that passed all laboratory quality criteria with fetal fractions between 4 and 8% were fitted into two normal distributions, one for euploids and one for T21 positives. The fitted distribution was used to estimate specificity and sensitivity.</p

Impact of BMI on Final Results.

<p>This figure shows a breakdown of final results when binned by maternal BMI. The number of patients in each bin is displayed above their respective bin.</p

Summary of analysis results for each of the studies performed. Sens = sensitivity.

<p>Spec = specificity; NA = Not applicable.</p

Paired comparison of z-scores.

<p>Z-scores were calculated for 1269 paired samples with previously described GC normalized, repeat masked z-scores on the x-axis <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0057381#pone.0057381-Palomaki1" target="_blank">[7]</a> and z-scores from the high-throughput assay on the y-axis. Samples classified by karyotype analysis as trisomies for A) Chromsome 21, B) Chromosome 13, or C) Chromosome 18 are shown in blue; unaffected samples for each aneuploidy condition are shown in gray. Red horizontal and vertical lines in each plot represent the respective classification cutoff for that chromosome (z = 3 for chromosome 21, z = 3.95 for chromosomes 13 and 18). Black line in plot represents y = x.</p

Paired comparison of z-scores.

<p>Z-scores were calculated for paired samples with previously described GC normalized, repeat masked z-scores on the x-axis <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0057381#pone.0057381-Palomaki1" target="_blank">[7]</a> and z-scores from the same libraries sequenced in 12-plex on the y-axis. Samples classified by karyotype analysis as trisomies for A) Chromosome 21, B) Chromosome 13, or C) Chromosome 18 are shown in blue; unaffected samples for each aneuploidy condition are shown in gray. Red horizontal and vertical lines in each plot represent the respective classification cutoff for that chromosome (z = 3 for chromosome 21, z = 3.95 for chromosomes 13 and 18).</p

Summary of sample types utilized for each of the studies performed.

<p>Summary of sample types utilized for each of the studies performed.</p