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The abnormal NIPT cases confirmed by FISH and karyotyping.
| Trisomy 21 | Trisomy 18 | Trisomy 13 | 45,X | 47,XXX | 47,XXY | 47,XYY | 69,XXX | Total | |
|---|---|---|---|---|---|---|---|---|---|
| NIPT | 38 * | 11 | 3 | 7 | 1 | 1 | 1 | 1 | 63 |
| FISH | 33 | 11 | 3 | 3 ** | 1 | 0 | 1 | 1 | 53 |
| Karyotyping | 33 | 11 | 3 | 2 | 1 | 0 | 1 | 1 | 52 |
* including two pairs of twins, ** one mosaic case (#13 in Table 2) detected by FISH but not by karyotyping; NIPT, non-invasive prenatal testing; FISH, fluorescent in situ hybridization.
