Table 3.
Frequency of Ultrasonographically Detected Anomalies by Anatomical System in Karyotypically Normal Pregnancies
| ALL (n=752) | Isolated | |||||||
|---|---|---|---|---|---|---|---|---|
|
| ||||||||
| Ultrasound Anomaly | n† | Array CNVs(n) | IncrementalYield (%) | P | n | Array CNVs(n) | IncrementalYield (%) | P |
| Cardiac | 154 | 24 | 15.58% | <0.001‡ | 66 | 7 | 10.61% | 0.012* |
| Face | 66 | 10 | 15.15% | <0.001*‡ | 20 | 2 | 10.00% | - |
| Thorax | 40 | 6 | 15.00% | 0.004* | 22 | 1 | 4.55% | - |
| Amniotic Fluid | 44 | 6 | 13.64% | 0.006* | 2 | 1 | 50.00% | - |
| Head shape | 23 | 3 | 13.04% | - | 6 | 0 | ||
| Umbilical | 32 | 4 | 12.50% | 0.03* | 0 | 0 | ||
| Renal | 69 | 8 | 11.59% | 0.004* | 20 | 3 | 15.00% | 0.036* |
| Gastrointestinal | 37 | 4 | 10.81% | 0.047* | 5 | 0 | ||
| Central nervous system | 149 | 14 | 9.40% | <0.001‡ | 63 | 2 | 3.17% | - |
| Skeletal | 136 | 12 | 8.82% | 0.003 | 36 | 1 | 2.78% | - |
| Genital | 12 | 1 | 8.33% | - | 3 | 0 | ||
| Effusion | 65 | 4 | 6.15% | - | 15 | 1 | 6.67% | - |
| Spine | 18 | 1 | 5.56% | - | 2 | 0 | ||
| Neck | 236 | 12 | 5.08% | - | 187 | 7 | 3.74% | - |
| Neck (excluding NT>3.5mm, NF>6mm, and cystic hygroma) | 2 | 0 | 1 | 0 | ||||
| Abdominal wall | 40 | 1 | 2.50% | - | 24 | 0 | ||
| Ear | 0 | 0 | 0 | 0 | ||||
| Placenta | 8 | 0 | 1 | 0 | ||||
CNVs, copy number variants; NT = nuchal translucency; NF= nuchal fold,.
†
Numbers add up to >752, as each fetus may have anomalies in more than one system.
*
P-value calculated using Fisher’s Exact test.
‡
Bonferroni correction threshold: p=.001.