Table 3 Detailed information of inconsistent samples detected by dPCR
Case | Sample Information | CMA | dPCR | ||||||
|---|---|---|---|---|---|---|---|---|---|
GA | MA | cfDNA (ng/ul) | Deletion/Duplication | Size (Mb) | region | ZA-B | ZB-D | final result | |
(WKRS) | (YRS) | ||||||||
Patient 5 | 18 + 3 | 26 | 0.320 | duplication | 2.8 | LCRA-D | 0.397 | − 0.101 | Negative |
Patient 6 | 18 + 3 | 35 | 0.128 | deletion | 3.2 | LCRA-D | − 0.783 | − 0.958 | Negative |
Patient 10 | 26 | 21 | 0.284 | duplication | 2.8 | LCRA-D | − 5.603 | − 5.683 | deletion(LCRA-D) |
Patient 14 | 19 + 5 | 34 | 0.466 | deletion | 1.7 | LCRA-B | − 0.775 | − 0.229 | Negative |
Negative case 23 | 23 + 5 | 31 | 0.415 | Negative | – | – | 5.202 | 2.1 | duplication(LCRA-B) |
Negative case 53 | 19 | 30 | 0.314 | Negative | – | – | 4.083 | 3.336 | duplication(LCRA-B) |
Negative case 76 | 21 | 33 | 0.438 | Negative | – | – | − 4.771 | − 5.122 | deletion(LCRA-D) |
Negative case 114 | 26 + 2 | 24 | 0.332 | Negative | – | – | 4.945 | 6.959 | duplication(LCRA-D) |