Table 2.
Distribution of diagnosis across the anatomical systems of fetuses in the present cohort
| Cases (trios) | Double diagnosisa | CNV | Genetic variants | Diagnostic rate (%) | |
|---|---|---|---|---|---|
| Cardiac | 265 | 3 | 30 | 38 | 26.79 |
| Chest and respiratory tract | 43 | 0 | 3 | 1 | 9.30 |
| CNS | 116 | 0 | 8 | 11 | 16.38 |
| Facial | 127 | 1 | 7 | 9 | 13.39 |
| Gastrointestinal tract and AW | 42 | 1 | 5 | 2 | 19.05 |
| Genitourinary | 94 | 0 | 6 | 7 | 13.83 |
| Hydrops | 31 | 2 | 3 | 3 | 25.81 |
| Increased NT | 20 | 0 | 3 | 4 | 35.00 |
| Skeletal | 94 | 3 | 9 | 27 | 41.49 |
| Multisystem | 127 | 0 | 25 | 16 | 32.28 |
| Total | 959 | 10 | 99 | 118 | 23.67 |
Fetuses were counted once
CNV copy number variation; CNS central nervous system; AW abdominal wall; NT nuchal translucency
aDouble diagnosis: fetuses that were diagnosed harboring causative CNV and genetic variants (single nucleotide variants and small insertion or deletion)