Figure - available from: Molecular Cytogenetics
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Microarray profile depicting gain (partial trisomy) of the distal long arm of chromosome 15. Representative microarray profile of the fetus showing copy number state and Log2 ratio (A-top panel) and the whole genome view (B-lower panel) are shown for chromosome 15 (arrows)

Microarray profile depicting gain (partial trisomy) of the distal long arm of chromosome 15. Representative microarray profile of the fetus showing copy number state and Log2 ratio (A-top panel) and the whole genome view (B-lower panel) are shown for chromosome 15 (arrows)

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Background Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing technology are becoming promising and more reliable, the ability to detect beyond an...