Table 4.
Frequency of All Ultrasonographically Detected Abnormalities, Showing Abnormal Karyotypes From G-Banding and Additional Array Findings, by Anatomical Systems and Subcategories
| Anomaly | n† | Abnormal Karyotype | CNV by Array | Normal Karyotype | Incremental Yield | P-Value (Chi-Square or Fisher) |
|---|---|---|---|---|---|---|
| Cardiac+ | 232 | 78 | 24 | 154 | 15.58% | <0.001‡ |
| Cardiac (Single) | 76 | 10 | 7 | 66 | 10.61% | 0.012* |
|
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| Four-chamber abnormality (no other heart anomalies) | 136 | 50 | 11 | 86 | 12.79% | <0.001*‡ |
| Four-chamber abnormality (single) | 39 | 4 | 2 | 35 | 5.71% | - |
| Outflow abnormality (no other heart anomalies) | 25 | 8 | 5 | 17 | 29.41% | <0.001*‡ |
| Outflow abnormality (single) | 11 | 1 | 3 | 10 | 30.00% | 0.005* |
| Tetralogy of Fallot (single) | 9 | 3 | 1 | 6 | 16.67% | - |
| Double outlet right ventricle (single) | 0 | 0 | 0 | 0 | ||
| Heterotaxy | 2 | 0 | 0 | 2 | ||
|
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| Face | 108 | 42 | 10 | 66 | 15.15% | <0.001*‡ |
| Face (single) | 21 | 1 | 2 | 20 | 10.00% | - |
|
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| Cleft Lip and/or palate | 42 | 17 | 3 | 25 | 12.00% | - |
| Cleft lip (single) | 6 | 1 | 0 | 5 | ||
| Cleft palate (single) | 0 | 0 | 0 | 0 | ||
| Profile | 44 | 14 | 5 | 30 | 16.67% | 0.005* |
| Profile (single) | 6 | 0 | 1 | 6 | 16.67% | - |
| Frontal bossing | 8 | 0 | 0 | 8 | ||
| Frontal bossing (single) | 1 | 0 | 0 | 1 | ||
| Micrognathia | 25 | 10 | 3 | 15 | 20.00% | 0.016* |
| Micrognathia (single) | 5 | 0 | 1 | 5 | 20.00% | - |
| Profile flat | 9 | 3 | 2 | 6 | 33.33% | 0.018* |
| Profile flat (single) | 0 | 0 | 0 | 0 | ||
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| Thorax | 50 | 10 | 6 | 40 | 15.00% | 0.004* |
| Thorax (single) | 22 | 0 | 1 | 22 | 4.55% | - |
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| Congenital diaphragmatic hernia | 36 | 6 | 3 | 30 | 10.00% | - |
| Cystic lung lesion | 6 | 0 | 1 | 6 | 16.67% | - |
| Hypoplastic thorax | 4 | 1 | 0 | 3 | ||
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| Renal tract | 93 | 24 | 8 | 69 | 11.59% | 0.004* |
| Renal tract (single) | 20 | 0 | 3 | 20 | 15.00% | 0.036* |
|
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| Hydronephrosis | 37 | 14 | 3 | 23 | 13.04% | - |
| Hydronephrosis (single) | 5 | 0 | 0 | 5 | ||
| Large/multicystic kidney | 41 | 7 | 6 | 34 | 17.65% | 0.002* |
| Bladder | 22 | 5 | 2 | 17 | 11.76% | - |
| Renal agenesis | 6 | 2 | 0 | 4 | ||
|
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| CNS | 200 | 51 | 14 | 149 | 9.40% | <0.001‡ |
| CNS (Single) | 71 | 8 | 2 | 63 | 3.17% | - |
|
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| Neural tube defects (no other CNS anomalies) | 30 | 8 | 0 | 22 | ||
| Neural tube defects with ventriculomegaly | 8 | 0 | 2 | 8 | 25.00% | 0.033* |
| Posterior Fossa defects (no other CNS anomalies) | 37 | 9 | 0 | 28 | ||
| Posterior Fossa defects with ventriculomegaly | 11 | 1 | 2 | 10 | 20.00% | 0.05* |
| Holoprosencephaly | 17 | 12 | 0 | 5 | ||
| Any other CNS defects only | 9 | 4 | 1 | 5 | 20.00% | - |
| Ventriculomegaly | 93 | 12 | 12 | 81 | 14.8% | <0.001‡ |
| Ventriculomegaly (single) | 24 | 1 | 2 | 23 | 8.7% | - |
|
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| Skeletal | 193 | 57 | 12 | 136 | 8.82% | 0.003 |
| Skeletal (Single) | 39 | 3 | 1 | 36 | 2.78% | - |
|
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| Skeletal dysplasia | 22 | 2 | 0 | 20 | ||
| Joint (excluding skeletal dysplasia) | 89 | 27 | 7 | 62 | 11.29% | 0.008* |
| Long bones (excluding skeletal dysplasia) | 66 | 22 | 5 | 44 | 11.36% | 0.023* |
| Long bones or Joint (excluding skeletal dysplasia) | 136 | 42 | 11 | 94 | 11.70% | <0.001*‡ |
| Long bones or joint (excluding skeletal dysplasia, foot, hand, and ribs) | 108 | 32 | 8 | 76 | 10.53% | 0.008* |
| Talipes (excluding skeletal dysplasia) | 72 | 17 | 5 | 55 | 9.09% | 0.053* |
| Talipes (single) | 14 | 0 | 1 | 14 | 7.14% | - |
n†,= numbers add up to >752 as each fetus may have anomalies in more than one subcategory.
CNV, copy number variant.
Four-chamber view =anomalous pulmonary venous return, atrial septal defect, AV canal defect, dextrocardia, Ebstein’s anomaly, cardiac tumor, hypolastic left or right heart, ventricular septal defect, other abnormal four-chamber view not otherwise specified; outflow tracts = aortic stenosis, coarctation of the aorta, interrupted aortic arch, transposition of the great arteries, truncus arteriosus, abnormal outflow tracts not otherwise specified.
P-value calculated using Fisher’s Exact test.
Bonferroni correction threshold: p=.001.