Table 3 Comparison of detection rates of karyotype and CNV-SEQ classified according to prenatal diagnostic indications
Indications | CNV-Seq abnormal | Detection rate | Karyotype abnormal | Detection rate |
|---|---|---|---|---|
AMA (N = 401) | 20 | 5.0% | 12 | 2.9% |
HR-MSS (N = 388) | 31 | 8.0% | 11 | 2.8% |
USM (N = 105) | 14 | 13.3% | 7 | 6.7% |
HR-NIPT (N = 40) | 19 | 47.5% | 16 | 40.0% |
Others (N = 57) | 4 | 7.0% | 3 | 5.3% |
Mixed (N = 10) | 1 | 10.0% | 1 | 10.0% |
Total (N = 1001) | 89 | 8.9% | 50 | 5.0% |