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 |