Table 1.
Prevalence rates of chromosomal abnormalities in different soft marker groups
| Ultrasound category | Ultrasound-determined gestational age | Number of fetuses | Chromosomal abnormalities (n (%)) | Aneuploidies | CNVs | Translocations |
|---|---|---|---|---|---|---|
| Increased NT | First-trimester | 294 | 27(9.18) | 20 | 4 | 3 |
| Absent nasal bone | First-trimester | 70 | 9(12.86) | 8 | 1 | 0 |
| Single umbilical artery | First-trimester | 12 | 0(0.00) | 0 | 0 | 0 |
| Choroid plexus cyst | Second-trimester | 48 | 3(6.25) | 1 | 2 | 0 |
| Short femur | Second-trimester | 26 | 1(3.85) | 1 | 0 | 0 |
| Mild ventriculomegaly | Second-trimester | 25 | 0(0.00) | 0 | 0 | 0 |
| Tricuspid regurgitation | Second-trimester | 19 | 2(10.53) | 0 | 2 | 0 |
| Aberrant right subclavian artery | Second-trimester | 19 | 1(5.26) | 0 | 0 | 1 |
| Echogenic bowel | Second-trimester | 12 | 0(0.00) | 0 | 0 | 0 |
| Echogenic intracardiac focus | Second-trimester | 5 | 3(60.00) | 3 | 0 | 0 |
| Other | - | 15 | 0(0.00) | 0 | 0 | 0 |
| Multiple Soft Markers | - | 77 | 25(32.47) | 24 | 0 | 1 |
| Total | - | 622 | 71(11.41) | 57 | 9 | 5 |