Table 3 The efficiency of different sequencing depth and CNV size in NIPT and NIPT-PLUS
Index | CNV size | Prenatal diagnostic validated by CMA | Total PPV | ||
|---|---|---|---|---|---|
Positive | Negative | Positive rate (%) | |||
NIPT | CNV (< 3Mb) | 21 | 21 | 50.00 | 61/197(30.96%) |
CNV (3–5Mb) | 8 | 17 | 32.00 | ||
CNV (5–10Mb) | 12 | 19 | 38.71 | ||
CNV (> 10Mb) | 20 | 79 | 20.20 | ||
NIPT-PLUS | CNV (< 3Mb) | 19 | 17 | 52.78 | 41/94(43.61%)* |
CNV (3–5Mb) | 7 | 10 | 41.18 | ||
CNV (5–10Mb) | 5 | 13 | 27.78 | ||
CNV (> 10Mb) | 10 | 13 | 43.48* | ||