Table 4.
CNV size | TP | FP | FN | Sensitivity (%) | PPV (%) | FNR (%) |
---|---|---|---|---|---|---|
>10 Mb | 11 | 2 | 1 | 91.67 | 84.62 | 9.33 |
5 Mb–10 Mb | 5 | 2 | 0 | 100.00 | 71.43 | NA |
<5 Mb | 13 | 3 | 6 | 68.42 | 81.25 | 31.58 |
Total CNVs | 29 | 7 | 7 | 80.56 | 80.56 | 19.44 |
TP, true positive NIPSCCD‐detected CNVs that were confirmed by amniocytes testing; FP, inconsistent CNVs that were detected by NIPSCCD while not detected by amniocytes testing were classified as false positive; FN, amniocytes testing‐characterized CNVs that were not detected by the NIPSCCD method; PPV, positive predictive value; FNR, false negative rate; NA, not applicable.