Table 4.
The SEV, SPC, PPV and NPV of NIPT for fetal SCAs based on BGISEQ-500 sequencing platform
| 45,X | 47,XXY | 47,XXX | 47,XYY | Total | |
|---|---|---|---|---|---|
| NIPT high-risk(case) | 19 | 12 | 10 | 2 | 43 |
| TP (case) | 7 | 9 | 9 | 1 | 26 |
| FP (case) | 12 | 3 | 1 | 1 | 17 |
| TN(case) | 551 | 558 | 560 | 568 | 527 |
| FN (case) | 0 | 0 | 0 | 0 | 0 |
| SEV (%) | 100% | 100% | 100% | 100% | 100% |
| (95%CI) | (59.04–100.00%) | (66.37–100.00%) | (66.37–100.00%) | (2.50–100.00%) | (86.77–100.00%) |
| SPC (%) | 97.87% | 99.47% | 99.82% | 99.82% | 96.88% |
| (95%CI) | (96.31–98.89%) | (98.45–99.89%) | (99.01–100.00%) | (99.02–100.00%) | (95.04–98.17%) |
| PPV(%) | 36.84% | 75.00% | 90% | 50% | 60.47% |
| (95%CI) | (25.00–50.52%) | (49.25–90.27%) | (55.95–98.46%) | (12.37–87.63%) | (48.93–70.95%) |
| NPV(%) | 100% | 100% | 100% | 100% | 100% |
| Accuracy(%) | 97.89% | 99.47% | 97.89% | 99.82% | 97.02% |
| (95%CI) | 96.35–98.91% | 98.47–99.89% | 96.35–98.91% | 99.03–100.00% | 95.27–98.25% |
TP true positive, FP false positive, TN true negative, FN false negative, SEV sensitivity, SPC specificity, PPV Positive predict value, NPV Negative predict value, CI Confidence interval