Table 2 The detection rate of different sequencing depth and CNV size in NIPT and NIPT-PLUS
Index | CNV size | Positive | Positive rate (%) | Total detection rate (%) |
|---|---|---|---|---|
NIPT | CNVs (< 3 Mb) | 57 | 0.13 | 0.58 |
CNVs (3–5 Mb) | 35 | 0.08 | ||
CNVs (5–10 Mb) | 35 | 0.08 | ||
CNVs (> 10 Mb) | 123 | 0.29 | ||
NIPT-PLUS | CNVs (< 3 Mb) | 45 | 0.58 | 1.60* |
CNVs (3–5 Mb) | 27 | 0.35 | ||
CNVs (5–10 Mb) | 24 | 0.31 | ||
CNVs (> 10 Mb) | 27 | 0.35 |