Table 2.
Results of cell‐free DNA analysis by neoBona® test for fetal trisomy screening in 988 women with test result, according to outcome
| Result | Euploid (n = 901) | Trisomy 21 (n = 47) | Trisomy 18 (n = 30) | Trisomy 13 (n = 10) |
|---|---|---|---|---|
| NCV for chromosome 21 | −0.01 (−3.43 to 3.55) | 11.50 (3.59 to 25.67) | 0.32 (−1.88 to 3.48) | −0.048 (−1.36 to 1.25) |
| t‐score for trisomy 21 | −23.2 (−1074.2 to 0.6) | 101.0 (7.2 to 392.1) | −12.0 (−178.4 to −1.1) | −20.5 (−121.8 to −5.2) |
| NCV for chromosome 18 | 0.01 (−3.25 to 6.17) | −0.24 (−2.42 to 2.71) | 12.24 (−1.22* to 36.91) | 0.72 (−1.49 to 2.56) |
| t‐score for trisomy 18 | −31.3 (−1960.6 to 1.0) | −38.6 (−322.2 to −3.6) | 94.5 (−17.9* to 765.2) | −21.9 (−247.2 to −7.2) |
| NCV for chromosome 13 | 0.001 (−4.55 to 4.44) | −0.09 (−1.91 to 2.58) | 0.42 (−2.30 to 2.16) | 14.76 (6.31 to 28.50) |
| t‐score for trisomy 13 | −37.6 (−2591.6 to 0.1) | −48.6 (−449.6 to −1.3) | −15.2 (−442.6 to 2.0) | 209.3 (23.9 to 479.5) |
| Fetal fraction (%) | 10.2 (0.3 to 33.8) | 10.7 (3.8 to 19.8) | 9.6 (0.8 to 23.0) | 7.9 (4.0 to 15.3) |
| Trisomy 21 t‐score > 1.5 | 0 (0) | 47 (100) | 0 (0) | 0 (0) |
| Trisomy 18 t‐score > 3.0 | 0 (0) | 0 (0) | 29 (96.7) | 0 (0) |
| Trisomy 13 t‐score > 3.0 | 0 (0) | 0 (0) | 0 (0) | 10 (100) |
Data are given as median (range) or n (%).
*
Value from the only discrepant result; case of trisomy 18 with 11% fetal fraction resulted in trisomy likelihood score (t‐score) and normalized chromosome value (NCV) compatible with normal chromosome 18 copy number.