Table 4.
Details of samples with discordant array and NIPT CNV results
| Sample ID | Array result | Diagnostic procedure | Fetal fraction | cfDNA reported result | uni/biplex result |
|---|---|---|---|---|---|
| 45164 | 7p22.3p15.2(43,360–26,275,617) × 3, 7p15.2(26,275,995–26,341,643) × 1, 15q26.2q26.3(98,178,487–102,429,112) × 1 | Amnio | 0.125 | Negative | del15q26.2q26.3 |
| 76383 | 15q21.2q26.3 (50,945,434–102,531,392) × 3 | Amnio | 0.080 | Negative | Negative |
| 45287 | arr(1–22,X) × 2 | CVS | 0.109 | 45,X | 45,X |
| 40681 | arr(1–22,X) × 2 | Amnio | 0.089 |
47,XXX (suspected maternal) |
NA |
| 77361 | arr(1–22,X) × 2 | Amnio | 0.046 |
47,XXX (suspected maternal) |
NA |
| 76393 | arr(1–22,X) × 2 | Amnio | 0.049 | del15q11.2-q13.1 | Negative |
| 94767 | arr(1–22) × 2,(XY) × 1 | Amnio | 0.054 | del5p15 | Negative |
| 76177 | arr(1–22) × 2,(XY) × 1 | Amnio | 0.095 | T13 (mosaic) | T13 (mosaic) |
| 93941 | arr(1–22,X) × 2 | Amnio | 0.045 | T14 | T14 (mosaic) |
| 76354 | arr(1–22) × 2,(XY) × 1 | Amnio | 0.125 | T16 | T16 |
| 76178 | arr(1–22,X) × 2 | Amnio | 0.068 | T16 | T16 |
| 94932 | arr(1–22,X) × 2 | Amnio | 0.169 | T16 | T16 |
| 76028 | arr(1–22) × 2,(XY) × 1 | Amnio | 0.095 | T16 (mosaic) | T16 (mosaic) |
| 54712 | arr(1–22,X) × 2 | Amnio | 0.102 | T21 (mosaic) | T21 (mosaic) |
| 54705 | arr(1–22) × 2,(XY) × 1 | CVS | 0.077 | T22 (mosaic) | Failed re-sequencing |
| 82511 | arr(1–22,X) × 2 | Amnio | 0.176 | T7 | T7 |
| 94639 | arr(1–22,X) × 2 | Amnio | 0.124 | T7 (mosaic) | T7 |
| 94666 | arr(1–22,X) × 2 | Amnio | 0.108 | T7 (mosaic) | T7 (mosaic) |
| 40637 | arr(1–22) × 2,(XY) × 1 | Amnio | 0.118 | T7/T21 (mosaic) | T7/T21 (mosaic) |
cfDNA cell-free DNA, NA not applicable, CVS chorionic villus sampling, T13 trisomy 13, T14 trisomy 14, T16 trisomy 16, T21 trisomy 21, T22 trisomy 22, T7 trisomy 7