Table 2.
The performance of NIPT for detection of fetal aneuploidy
| NIPT result (N = 14,316) | Positive(n) | TP(n) | FN(n) | Sensitivity | Specificity | PPV | NPV |
|---|---|---|---|---|---|---|---|
| T21 | 49 | 45 | 1 | 97.83% | 99.97% | 91.84% | 99.99% |
| T18 | 16 | 11 | 0 | 100.00% | 99.99% | 68.75% | 100.0% |
| T13 | 16 | 6 | 0 | 100.00% | 99.96% | 37.50% | 100.0% |
| XO | 29 | 22 | 0 | 100.00% | 99.96% | 75.86% | NA |
| XXY | 16 | 8 | 0 | 100.00% | 99.96% | 50.00% | NA |
| XYY | 9 | 5 | 0 | 100.00% | 99.98% | 55.56% | NA |
| XXX | 9 | 3 | 0 | 100.00% | 99.96% | 33.33% | NA |
| CNV | 14 | 2 | NA | – | – | 14.29% | NA |
| other autosomal aneuploidy abnormalities | 31 | 2 | NA | – | – | 6.45% | NA |
| Total | 189 | 104 | – | – | 55.03% | NA |
Since sex chromosome abnormalities and CNV abnormalities may not appear clinically during follow-up, it is impossible to calculate false negatives or false positives, so sensitivity and specificity are not calculated
NPV negative predictive value, PPV positive predictive value, Positive the NIPT(+), TP true positive, both NIPT(+) and interventional prenatal diagnosis (+), FN false negative, PPV positive predictive value, NPV negative predictive value