Cohort 2: prenatal ultrasound findings in fetuses with normal chromosomal microarray and analysed for rasopathy using next generation sequencing panel
| Prenatal findings | Total (n (%)) | Mutation positive (n (%)) | Mutation negative (n (%)) | P-value |
| Increased NT/cystic hygroma in first trimester* | 166/193 (86) | 23/25 (92) | 143/168 (85) | 0.282 |
| Persistent NT | 61/193 (32) | 16/25 (64) | 45/168 (27) | 0.000 |
| Jugular lymph sacs | 24/193 (12) | 12/25 (43) | 12/168 (7) | 0.000 |
| Hydrops fetalis | 26/193 (13) | 14/25 (56) | 12/168 (7) | 0.000 |
| Pleural effusion | 32/193 (17) | 11/25 (44) | 21/168 (13) | 0.000 |
| Ascites | 8/193 (4) | 3/25 (12) | 5/168 (3) | 0.069 |
| Cardiac anomalies | 34/193 (18) | 12/25 (48) | 22/168 (13) | 0.000 |
| Renal anomalies | 10/193 (5) | 4/25 (16) | 6/168 (4) | 0.027 |
| Polyhydramnios | 7/193 (4) | 4/25 (16) | 3/168 (2) | 0.006 |
| Other anomalies | 32/193 (17) | 9/25 (36) | 23/168 (14) | 0.009 |
*Excluding nuchal fold, which is measured at approximately 20 weeks of gestation.
NT, nuchal translucency.