Table 9.
Diagnostic methods and result characteristics of confirmed cases
| Method | T 21 |
T 18 |
T 13 |
SCAs | Polyploidy | Structural | Mosaic | Mar ker |
Total | Proportion (%) | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | CMA | 18 | 3 | 1 | 10 | 47 | 79 | 14.18 | |||
| Karyo | 34 | 8 | 2 | 4 | 15 | 5 | 68 | 12.21 | |||
| CNV-seq | 1 | 4 | 5 | 0.90 | |||||||
| FISH | 2 | 2 | 0.36 | ||||||||
| 2 | Karyo + QF | 78 | 23 | 3 | 14 | 2 | 40 | 23 | 2 | 185 | 33.21 |
| QF + FISH | 76 | 8 | 1 | 7 | 1 | 3 | 96 | 17.24 | |||
| Karyo + CMA | 19 | 5 | 1 | 9 | 14 | 7 | 1 | 56 | 10.05 | ||
| CMA + QF | 9 | 2 | 2 | 7 | 15 | 35 | 6.28 | ||||
| CNV-seq + QF | 1 | 1 | 0.18 | ||||||||
| ≥ 3 | 7 | 5 | 4 | 12 | 2 | 30 | 5.39 | ||||
| Total | 244 | 55 | 10 | 55 | 2 | 148 | 40 | 3 | 557 | 100.00 | |
Karyo Karyotype, QF QF–PCR.
The “+” symbol indicates “combined with”