Table 1.
Overview of samples and results for targeted sequencing.
| Sample ID | Gestational age (weeks) | Trophoblast cell purity (% β-hCG) | Fetal gender | Autosomal STR alleles in TRIC | % Fetal fraction (% maternal fraction) | Number of SNVs in fetal trophoblast cells | |||
|---|---|---|---|---|---|---|---|---|---|
| Median | Range | After threshold (% of total number of SNVs) | Number of discriminatory SNV (% of total number of SNV after threshold) | Incorrectly called in fetal trophoblast cells after threshold | |||||
| SA | 5 | 86 | Male | 94.8 | 85.6–100 | 97.6 (2.4) | 93 (98.9) | 41 (44.0) | 0 |
| SB | 5 | 89 | Female | 85.5 | 75.1–100 | 92.2 (7.8) | 77 (81.9) | 31 (40.2) | 0 |
| SC | 5 | 91 | Female | 89.1 | 73.5–100 | 87.2 (12.8) | 82 (87.2) | 39 (47.5) | 0 |
| SD | 6 | 85 | Female | 91.9 | 80.8–98.7 | 95.2 (4.8) | 89 (94.7) | 40 (44.9) | 0 |
| SE | 6 | 92 | Male | 86.4 | 85.7–96.9 | 85.6 (14.4) | 62 (66.0) | 25 (40.3) | 0 |
| SF | 6 | 93 | Male | 88.1 | 73.2–99.4 | 75.6 (24.4) | 55 (58.5) | 11 (20.0) | 0 |
| SG | 6 | 89 | Male | 93.3 | 84.9–100 | 93.9 (6.1) | 91 (96.8) | 45 (49.4) | 0 |
| SH | 6 | 86 | Female | 92.7 | 77.8–98.5 | 98.6 (1.4) | 89 (94.7) | 47 (52.8) | 0 |
| SI | 6 | 89 | Male | 95 | 88.9–100 | 100 (0.0) | 90 (95.7) | 35 (38.8) | 0 |
| SJ | 7 | 92 | Female | 89 | 77.7–96.6 | 82.1 (17.9) | 68 (72.3) | 19 (27.9) | 0 |
| SK | 8 | 80 | Female | 89 | 72.3–100 | 82.4 (17.6) | 74 (78.7) | 22 (29.7) | 0 |
| SL | 8 | 96 | Female | 92 | 79.6–99.4 | 97.2 (2.8) | 87 (92.6) | 38 (43.6) | 0 |
| SM | 8 | 96 | Female | 90.2 | 78.3–100 | 90.8 (9.2) | 91 (96.8) | 44 (48.3) | 0 |
| SN | 8 | 92 | Female | 93.3 | 76.5–99.2 | 92.8 (7.2) | 90 (95.7) | 42 (46.6) | 0 |
| SO | 9 | 85 | Male | 93.6 | 79.8–100 | 92.9 (7.1) | 90 (95.7) | 46 (51.1) | 0 |
| SP | 9 | 94 | Male | 91.9 | 81.9–100 | 100 (0.0) | 92 (97.9) | 37 (40.2) | 0 |
| SQ | 11 | 85 | Female | 91.9 | 73.8–97.6 | 95.9 (4.1) | 89 (94.7) | 39 (43.8) | 0 |
| SR | 13 | 91 | Male | 87.4 | 77.7–100 | 91.9 (8.1) | 77 (81.9) | 41 (53.2) | 0 |
| SS | 14 | 90 | Male | 91.7 | 81.8–100 | 92.6 (7.4) | 93 (98.9) | 44 (47.3) | 0 |
| ST | 19 | 80 | Female | 93.2 | 85.3–99.5 | 98.7 (1.3) | 92 (97.9) | 48 (52.1) | 0 |