Supplementary FiguresSupplementary Figure Legends;1.a and 1.b. Examples of results for a good quality sample with a trisomy 21 (a), and a bad quality sample (b) with a QS of 2.83 which would be classed as a failed result and a repeat sample requested. For each sample, the plots are shown for all of the autosomes.

2. Results of the in silico simulation of test accuracy. Simulations of test results are plotted for 2 to 9 million informative reads (X axis) and fetal fraction (Y axis). Each data point corresponds to a different simulation. Green triangles indicate the identification of an aneuploidy and the red boxes indicate a normal diploid result which would be representative of a false negative. Black circles represent inconclusive z-scores (2.5-3). Purple crosses and blue triangles are samples with a normal z-score (3) with either normal or inconclusive secondary parameters, respectively. Combinations of read number and fetal fraction were repeated between 1 and 110 times.

3. Results of repeat sample analysis. (a) 2 normal results; (b) three trisomy 21 results; (c) one trisomy 13 result; (d) one undetermined trisomy 18 result; (e) 3 normal cases repeated in triplicate. Results are shown for chromosomes 21,18 and 13, and the QS scores are provided for each result.

4. An example diagnostic report.

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