Table 2 Detailed information of positive cases in this study
Positive Cases | Sample Information | CMA | dPCR | Fetal anomaly | Outcome | GA at delivery | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
GA | MA | cfDNA (ng/ul) | Deletion/Duplication | Size (Mb) | Region | ZA-B | ZB-D | Final result | ||||
(WKS) | (YRS) | |||||||||||
Patient 01 | 20 | 23 | 0.240 | duplication | 2.8 | LCRA-D | 9.891 | 13.18 | duplication(LCRA-D) | None | TOP | – |
Patient 02 | 19 | 35 | 0.412 | duplication | 2.8 | LCRA-D | 12.568 | 15.193 | duplication(LCRA-D) | None | TOP | – |
Patient 03 | 21 | 31 | 0.368 | duplication | 2.9 | LCRA-D | 11.988 | 14.978 | duplication(LCRA-D) | None | TOP | – |
Patient 04 | 18 + 4 | 25 | 0.332 | duplication | 1.4 | LCRA-B | 12.765 | − 0.293 | duplication(LCRA-B) | None | TOP | – |
Patient 05 | 18 + 3 | 26 | 0.320 | duplication | 2.8 | LCRA-D | 0.397 | − 0.101 | Negative | None | Live birth | Late preterm |
Patient 06 | 18 + 3 | 35 | 0.128 | deletion | 3.2 | LCRA-D | − 0.783 | − 0.958 | Negative | NT thickening | Live birth | Term |
Patient 07 | 24 + 5 | 31 | 0.203 | deletion | 3.2 | LCRA-D | − 18.274 | − 21.151 | deletion(LCRA-D) | Interrupted aortic arch, VSD | TOP | – |
Patient 08 | 24 + 1 | 32 | 0.250 | deletion | 3.2 | LCRA-D | − 3.716 | − 4.635 | deletion(LCRA-D) | Interrupted aortic arch | TOP | – |
Patient 09 | 22 + 3 | 23 | 0.320 | duplication | 1.4 | LCRA-B | 12.481 | − 0.661 | duplication(LCRA-B) | None | Live birth | Term |
Patient 10 | 26 | 21 | 0.284 | duplication | 2.8 | LCRA-D | − 5.603 | − 5.683 | deletion(LCRA-D) | None | TOP | – |
Patient 11 | 20 + 2 | 30 | 0.21 | deletion | 1.7 | LCRA-B | − 13.633 | − 0.8 | deletion(LCRA-B) | None | TOP | – |
Patient 12 | 23 + 5 | 21 | 0.348 | duplication | 3.2 | LCRA-D | 10.126 | 13.751 | duplication(LCRA-D) | None | TOP | – |
Patient 13 | 21 | 36 | 0.298 | duplication | 2.5 | LCRA-D | 15.868 | 17.86 | duplication(LCRA-D) | None | TOP | – |
Patient 14 | 19 + 5 | 34 | 0.466 | deletion | 1.7 | LCRA-B | − 0.775 | − 0.229 | Negative | Interrupted aortic arch | TOP | – |
Patient 15 | 18 + 5 | 26 | 0.284 | deletion | 0.8 | LCRB-D | − 0.287 | − 12.626 | deletion(LCRB-D) | Interrupted aortic arch, VSD | TOP | – |