Table 2 The efficiency of NIPT in screening SCA and CNV
From: Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases
NIPT results | Positive cases (N) | Amniotic fluid puncture Cases (N) | TP (N) | FP (N) | FN (N) | TN (N) | Specificity (%) | PPV (%) | FPR (%) |
|---|---|---|---|---|---|---|---|---|---|
SCA | 72 | 56 | 23 | 33 | 0 | 25446 | 99.87 | 41.07 | 0.13 |
45,X | 33 | 25 | 3 | 22 | 0 | 25477 | 99.91 | 12.00 | 0.09 |
47,XXY | 14 | 12 | 6 | 6 | 0 | 25490 | 99.98 | 50.00 | 0.02 |
47,XXX | 17 | 11 | 8 | 3 | 0 | 25491 | 99.99 | 72.73 | 0.01 |
47,XYY | 8 | 8 | 6 | 2 | 0 | 25494 | 99.99 | 75.00 | 0.01 |
CNV | 104 | 56 | 18 | 38 | 0 | 25446 | 99.85 | 32.14 | 0.15 |