Soft marker Soft marker N (%) N (%) Aneuploidy (%) pCNV pCNV pCNV
N (%) P OR (95% CI)
1 increased nuchal translucency increased nuchal translucency 6,188 (35.00%) 769 (12.43%) 254 (4.10%) < 0.0001 2.16 [1.90,2.45]
choroid plexus cysts choroid plexus cysts 2,101 (11.88%) 70 (3.33%) 46 (2.19%) 1.00 1.13 [0.83,1.51]
absent or hypoplastic nasal bone absent or hypoplastic nasal bone 1,901 (10.75%) 126 (6.63%) 61 (3.21%) 0.0034 1.68 [1.27,2.16]
echogenic intracardiac focus echogenic intracardiac focus 1,278 (7.23%) 32 (2.50%) 31 (2.43%) 1.00 1.26 [0.85,1.80]
mild ventriculomegaly mild ventriculomegaly 1,113 (6.30%) 39 (3.50%) 49 (4.40%) < 0.0001 2.33 [1.71,3.10]
single umbilical artery single umbilical artery 762 (4.31%) 19 (2.49%) 28 (3.67%) 0.022 1.93 [1.27,2.81]
mild pyelectasis mild pyelectasis 729 (4.12%) 10 (1.37%) 23 (3.16%) 0.45 1.65 [1.04,2.49]
aberrant right subclavian artery aberrant right subclavian artery 475 (2.67%) 6 (1.26%) 18 (3.79%) 0.11 1.99 [1.17,3.18]
echogenic bowel echogenic bowel 424 (2.40%) 5 (1.18%) 12 (2.83%) 1.00 1.47 [0.75,2.60]
short femur/humerus length short femur/humerus length 404 (2.29%) 11 (2.72%) 16 (3.96%) 0.14 2.08 [1.18,3.43]
thickened nuchal fold thickened nuchal fold 274 (1.55%) 15 (5.47%) 16 (5.84%) 0.0017 3.13 [1.76,5.19]
enlarged cisterna magna enlarged cisterna magna 207 (1.17%) 5 (2.42%) 6 (2.90%) 1.00 1.51 [0.55,3.34]
Total Total 15,856 (89.69%) 1,107 (6.98%) 560 (3.53%) < 0.0001 1.85 [1.70,2.01]
2 2 2 1,704 (9.64%) 153 (8.98%) 77 (4.52%) < 0.0001 2.39 [1.88,3.01]
≥ 3 ≥ 3 ≥ 3 119 (0.67%) 20 (16.81%) 7 (5.88%) 0.13 3.16 [1.24,6.72]