Table 2 Contribution of PCNV/UPD to molecular diagnoses when CMA was performed before, concurrently, or after ES
| Â | Number of patients | PCNV/UPD by CMA | PCNV/UPD detection rate# | SNV detection rate* | Contribution of PCNV/UPD in molecularly diagnosed cases |
|---|---|---|---|---|---|
ES + CMA | 3229 | 184 | 5.9% (189/3226) | 28.5% (919/3220) | 17.4% (189/1089) |
CMA done before ES | 1977 | 84 | 4.6% (91/1977) | 32.6% (643/1972) | 12.5% (91/727) |
 Partially solved |  | 63 |  |  |  |
 Inconclusive/non-diagnostic |  | 19 |  |  |  |
 Positive only once combined with ES data |  | 1 |  |  |  |
 Missed by CMA in original report |  | 1 |  |  |  |
Concurrent CMA/ES | 1045 | 75 | 7.2% (75/1042) | 24.1% (251/1041) | 23.6% (75/318) |
 Solved without ES |  | 49 |  |  |  |
 Partially solved |  | 22 |  |  |  |
 Inconclusive/non-diagnostic |  | 3 |  |  |  |
 Positive only once combined with ES data |  | 1 |  |  |  |
CMA done after ES | 207 | 22 | 11.1% (23/207) | 12.1% (25/207) | 50.0% (23/46) |
 Solved |  | 16 |  |  |  |
 Partially solved |  | 5 |  |  |  |
 Positive only once combined with ES data |  | 1 |  |  |  |