Fig 1. Detection of common microdeletions and Potocki-Lupksi syndrome using affected and unaffected spiked samples and normal pregnancy samples.

Plots display the Z-scores used for status classification. In all plots, red dots indicate affected samples and black dots unaffected samples. The threshold (grey line) was set to 3 standard deviations after score normalization and was negative for microdeletions and positive for microduplications. In all syndromes, affected samples passed the threshold, while unaffected did not, resulting in 100% sensitivity and specificity. PL: normal maternal plasma N: normal spiked sample 1p36: 1p36 deletion spiked sample NF1: NF1 microdeletion spiked sample POT: Potocki-Lupski spiked sample SMS: Smith-Magenis spiked sample MDS: Miller-Dieker spiked sample WHS: Wolf-Hirschhorn spiked sample 22q11: 22q11.2 deletion syndrome spiked sample.