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Table 4 NIPT false-positive cases caused by maternal chromosome aneuploidies, maternal cancer, and confined placental mosaicism

From: Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies

NGS platforms NIPT results Validated results
Illumina 45, X CPM (45, X/46, XY)
47, XXY Maternal SCAs
Chr1 aneuploidy Maternal Chr1 aneuploidy
Proton Chr7 aneuploidy CPM (47, XX, + 7/46, XX)
Chr8 aneuploidy Maternal Chr8 aneuploidy
Chr22 aneuploidy Maternal malignancy