Fig 1. Visualization of segment significance.

Bin read counts are depicted as gray dots, segments and their significance as colored horizontal lines. Here, we can see an approximately 16.2M long fetal deletion covering the whole Cri-Du-Chat region and a small deletion in the p14.1 region, both depicted in red. However, a possibly fetal deletion depicted by yellow between them may suggest that we are dealing with only one long deletion. Light grey vertical band depicts an unmappable region around the centromere, black bands signify bins that did not pass filtration for healthy characteristics (see Normalisation and filtering in Materials and methods section) and are excluded from the analysis. Light red band emphasizes the detected deletion and pathogenic region. The approximated Z-score of the deletion is displayed over the reported segments. Estimated level of aberration based on the fetal fraction of this sample (12.6%) is visualized as a red dashed line for fetal aberration and magenta dashed line for maternal aberration. This is the one of the very few real NIPT samples with a microaberration available to us.