Table 1 .
Samples assessed and cytogenetic results obtained
| Sample number | Predicted karyotype based on NGS result | Source of cells | Confirmatory result (method) |
|---|---|---|---|
| 1–3 | 47,XY,+21 | Single cell from cell line | 47,XY,+21 (G-banding) |
| 4–6 | 45,X | Single cell from cell line | 45,X (G-banding) |
| 7 and 8 | 47,XY,+16 | Single cell from cell line | 47,XY,+16 (G-banding) |
| 9 and 10 | 47,XY,+18 | Single cell from cell line | 47,XY,+18 (G-banding) |
| 11–14 | 46,XY | Single cell from cell line | 46,XY (G-banding) |
| 15–18 | 46,XX | Single cell from cell line | 46,XX (G-banding) |
| 19 | 47,XX,+12 | Embryo (blastomere) | 47,XX,+12 (aCGH) |
| 20 | 47,XX,+6 | Embryo (blastomere) | 47,XX,+6 (aCGH) |
| 21 | 48,XX,+8,+9 | Embryo (blastomere) | 48,XX,+8,+9 (aCGH) |
| 22 | 43,XY,−17,−21,−22 | Embryo (blastomere) | 43,XY,−17,−21,−22 (aCGH) |
| 23 | 46,XY | Embryo (trophectoderm) | 46,XY (aCGH) |
| 24 | 46,XY | Embryo (trophectoderm) | 46,XY (aCGH) |
| 25 | 46,XY | Embryo (trophectoderm) | 46,XY (aCGH) |
| 26 | 46,XY,−13,+21 | Embryo (trophectoderm) | 46,XY,−13,+21 (aCGH) |
| 27 | 46,XX,+14,−16 | Embryo (trophectoderm) | 46,XX,+14,−16 (aCGH) |
| 28 | 46,XX,+19,−22 | Embryo (trophectoderm) | 46,XX,+19,−22 (aCGH) |
| 29 | 45,XX,−9 | Embryo (trophectoderm) | 45,XX,−9 (aCGH) |
| 30 | 46,XX | Embryo (trophectoderm) | 46,XX (aCGH) |
| 31 | 48,XX,+11,+19 | Embryo (trophectoderm) | 48,XX,+11,+19 (aCGH) |
| 32 | 44,XY,−10,−18 | Embryo (trophectoderm) | 44,XY,−10,−18 (aCGH) |
| 33 | 46,XX,-2,+16 | Embryo (trophectoderm) | 46,XX,−2,+16 (aCGH) |
| 34 | 46,XY,+1,+9,−10,+11,−12,−22 | Embryo (trophectoderm) | 44,XY,+9,−10,−12,−22 (aCGH) |
| 35 | 47,XX,+9,+10,−21 | Embryo (trophectoderm) | 47,XX,+9,+10,−21 (aCGH) |
| 36 | 46,XX,+13,−17 | Embryo (trophectoderm) | 46,XX,+13,−17 (aCGH) |
| 37 | 45,XXY,−15,−17 | Embryo (trophectoderm) | 45,XXY,−13,−15,+16,−17 (aCGH) |
| 38 | 45,XY,−18 | Embryo (trophectoderm) | 45,XY,−18 (aCGH) |
| 39 | 44,XY,−12,−16 | Embryo (trophectoderm) | 44,XY,−12,−16 (aCGH) |
| 40 | 47,XY,+14 | Embryo (trophectoderm) | 47,XY,+14 (aCGH) |
| 41 | 47,XX,+21 | Embryo (trophectoderm) | 47,XX,+21 (aCGH) |
| 42 | 47,XX,+22 | Embryo (trophectoderm) | 47,XX,+22 (aCGH) |
| 43 | 47,XX,+16 | Embryo (trophectoderm) | 47,XX,+16 (aCGH) |
| 44 | 47,XX,+18 | Embryo (trophectoderm) | 47,XX,+18 (aCGH) |
| 45 | 47,XY,−7 | Embryo (trophectoderm) | 47,XY,−7 (aCGH) |
| 46 | 45,X | Embryo (trophectoderm) | 45,X (aCGH) |
| 47 | 45,XY,−22 | Embryo (trophectoderm) | 45,XY,−22 (aCGH) |
| 48a | 45,XX,−22 | Embryo (trophectoderm) | 45,XX−22 (aCGH) |
| 48b | 45,XX,−22 | Embryo (trophectoderm) | |
| 48c | 45,XX,−22 | Embryo (trophectoderm) | |
| 49 | 46,XX | Embryo (trophectoderm) | 46,XX (aCGH) |
| 50 | 46,XY | Embryo (trophectoderm) | 46,XY (aCGH) |
| 51 | 46,XY | Embryo (trophectoderm) | 46,XY (aCGH) |
| 52 | 46,XY | Embryo (trophectoderm) | 46,XY (aCGH) |
| 53 | 44,XY,−15,−19 | Embryo (trophectoderm) | 44,XY,−15,−19 (aCGH) |
| 54 | 47,XY,+22 | Embryo (trophectoderm) | 47,XY,+22 (aCGH) |
| 55 | 46,XX | Clinical embryo biopsy (trophectoderm) | Not applicable |
| 56 | 46,XY | Clinical embryo biopsy (trophectoderm) | Not applicable |
| 57 | 45,XY,−12 | Clinical embryo biopsy (trophectoderm) | Not applicable |
| 58 | 45,XX−2 | Clinical embryo biopsy (trophectoderm) | Not applicable |
| 59 | 46,XX | Clinical embryo biopsy (trophectoderm) | Not applicable |
| 60 | 46,XY | Clinical embryo biopsy (trophectoderm) | Not applicable |
| 61 | 46,XY | Clinical embryo biopsy (trophectoderm) | Not applicable |
Samples 23–54 (excluding 48b and 48c) were tested a second time as part of a large barcoded multiplex (a total of 32 samples) and yielded identical cytogenetic results. Samples 48a, 48b and 48c represent three separate trophectoderm biopsies performed on the same embryo.
aCGH, microarray comparative genomic hybridisation; NGS, next-generation sequencing.