Table 3. Summary of NGS results from NIPGS and TE samples obtained from the same blastocyst in fresh cases.
Sample Number | TE biopsy | NIPGS | WGA DNA concentration in NIPGS |
---|---|---|---|
1 | XY; normal | XY; mosaic -8 (70%) | 16.9 ng/μl |
2 | XY; mosaic loss: (-4q31.3-q35.2, 32.9Mb, 20%) | XY; mosaic gain: (+4q 22.1-q35.2, 94.3Mb, 30%) | 30.0 ng/μl |
3 | XY; -5, -13 | XY; -5, -13 | 26.0 ng/μl |
4 | XY; mosaic -9 (30%) | XY; normal | 22.5 ng/μl |
5 | XX; +13, +19, -21 | XX; +13, +19, -21 | 23.7 ng/μl |
6 | XY; +10, -11, -20 | XY; +10, -11, -20 | 22.6 ng/μl |
7 | XY; mosaic +6q22.1-q.25.2 (38.5Mb, 45%), mosaic -15 (50%) | XY; mosaic -8 (50%) | 36.0 ng/μl |
8 | XX; normal | XX; normal | 25.4 ng/μl |
9 | XX; normal | XX; normal | 6.3 ng/μl |
10 | XX; -18q12.2-q23 (43.34Mb) -12q11.2–12.1 (18.89Mb) | XX; -18q12.2-q23 (43.34Mb) -12q11.2–12.1 (18.89Mb) | 9.3 ng/μl |
11 | XY; mosaic -4q (118.6Mb, 20%) | XY; mosaic +13q21.1–31.3 (34.84Mb, 60%) | 11.7 ng/μl |
12 | XX; normal | XX; normal | 17.1 ng/μl |
13 | XX; normal | XX; normal | 11.4 ng/μl |
14 | XX; mosaic loss: (-3p.26.3 –p25.2, 12Mb, 35%) | XX; normal | 21.0 ng/μl |
15 | XX; -14 | XX; -14 | 14.0 ng/μl |
16 | XX; normal | XX; normal | 6.44 ng/μl |
17 | XY; normal | XY; normal | 14.4 ng/μl |
18 | XX; -15 | XX; -15 | 13.1 ng/μl |
19 | XY; +16, +21` | XY; +16, +21 | 22.9 ng/μl |
TE = Trophectoderm
NIPGS = Non-invasive preimplantation genetic screening