Comparison of the yields of pCNV in fetuses with ultrasonographic anomalies and soft markers with control group
The yields of pCNV for fetuses with ultrasonographic anomalies and soft markers were 3.37 times and 1.91 times higher than in fetuses with no identifiable anomalies, respectively. The yield of pCNV was significantly higher in 10 types of ultrasonographic anomalies (P<0.05, OR=1.63-2.63), of which the yield in six types of ultrasonographic anomalies was over 6%, including abdominal wall defect (7.43%, P=0.00066, OR=4.06, 95%CI [2.11,7.14]), cardiovascular system (7.07%), skeletal system (6.72%), central nervous system (6.63%), fetal growth restriction (6.43%), and respiratory system (6.04%). Abnormal amniotic fluid and fetal hydrops showed no significant differences in the yield of pCNV (Table 2). Furthermore, we observed that the yield of pCNV increased with the number of ultrasonographic anomalies. When fetuses presented with multiple ultrasonographic anomalies, the yields of pCNV increased from 5.68% (671/11,818) to 14.96% (41/274). Specifically, the yield of pCNV in fetuses with genitourinary and central nervous systems was 33.33% (6/18) (Table S2).
The yield of pCNV was significantly higher in thickened nuchal fold (5.84%, P=0.0017, OR=3.13, 95% CI [1.76,5.19]), mild ventriculomegaly (4.40%, P<0.0001, OR=2.33, 95% CI [1.71,2.30]), increased nuchal translucency (4.10%, P<0.0001, OR=2.16, 95% CI [1.90,2.45]), single umbilical artery (3.67%, P=0.022, OR=1.93, 95% CI [1.27,2.81]), and absent or hypoplastic nasal bone (3.21%, P=0.0034, OR=1.68, 95% CI [1.27,2.16]), and no significantly difference was observed in seven soft markers (Table 3). Similar to the ultrasonographic anomalies, the yield of pCNV were increased with the number of soft markers. When fetuses had multiple soft markers, the yield of pCNV increased from 3.53% (560/15,856) to 5.88% (7/119). Notably, only fetuses with increased nuchal translucency and single umbilical artery showed a significantly higher yield of pCNV (14.71%, P=0.017, OR=8.71, 95% CI [2.63,22.77]) (Table S3).