| Sonographic findings | N | Gene | Final Diagnosis |
|---|---|---|---|
| *Short ribbed skeletal dysplasia | 4 | FGFR3 | Thanatophoric dysplasia (TD) (4) |
| 3rd trimester short long bones | 10 | FGFR3 | Achondroplasia (5), IUGR (5) |
| Abnormal skull and hands | 1 | FGFR2 | Apert syndrome |
| Bowed femurs, female genitalia | 2 | SRY | Male fetus with campomelic dysplasia (2) |
| Multiple anomalies, abnormal genitalia | 1 | SRY | Smith Lemli Optiz syndrome |
| Bladder exstrophy | 1 | SRY | Male with bladder exstrophy |
| Ambiguous genitalia | 1 | SRY | Severe hypospadias |