Table 2.
Phenotypic characteristics of 713 fetuses.
| Anomaly on ultrasonography | Number (% total cohort) | Number of CNV anomaly (% total anomaly) | Number of pathogenic CNV | Number of VUS CNV |
|---|---|---|---|---|
| Sonographic structural malformation | 237 (33.2) | 30 (12.7) | 21 | 9 |
| Multiple malformations | 22 (3.1) | 7 (31.8) | 5 | 2 |
| Central nervous disease | 16 (2.2) | 4 (25.0) | 2 | 2 |
| Skeletal malformation | 9 (1.3) | 2 (22.2) | 2 | 0 |
| Congenital anomalies of the kidney and urinary tract | 39 (5.5) | 7 (17.9) | 4 | 3 |
| Congenital heart disease | 125 (17.5) | 10 (8.0) | 8 | 2 |
| Digestive malformation | 10 (1.4) | 0 (0.0) | 0 | 0 |
| Respiratory malformation | 8 (1.1) | 0 (0.0) | 0 | 0 |
| Craniofacial malformation | 8 (1.1) | 0 (0.0) | 0 | 0 |
| Non-structural abnormalities | 476 (66.8) | 27 (5.7) | 11 | 16 |
| Amniotic fluid volume abnormality and pericardial effusion | 20 (2.8) | 4 (20.0) | 1 | 3 |
| Fetal growth restriction | 120 (16.8) | 7 (5.8) | 5 | 2 |
| Abnormal soft indication | 336 (47.1) | 16 (4.8) | 5 | 11 |
CNV copy number variation, VUS variants of uncertain clinical significance.