Table 1 Proportion of diagnostic genetic variants identified in fetuses with each phenotypic abnormality
Phenotype Category | Trio cases | Positive trio cases | Positive rate of trio cases | Proband-only cases | Positive proband-only cases | Positive rate of proband-only cases |
|---|---|---|---|---|---|---|
Musculoskeletal system | 25 | 14 | 56% | 12 | 5 | 41.7% |
Abnormalities of multisystem | 21 | 8 | 38.1% | 15 | 0 | Â |
Genitourinary system | 18 | 2 | 11.1% | 6 | 1 | 16.7% |
Nervous system | 10 | 1 | 10% | 3 | 1 | 33.3% |
Other abnormalities of prenatal birth | 8 | 1 | 12.5% | 4 | 1 | 25% |
Craniofacial abnormalities | 7 | 1 | 14.3% | 4 | 0 | Â |
Cardiovascular system | 5 | 0 | Â | 3 | 0 | Â |
Abnormality of the abdomen | 1 | 0 | Â | 1 | 0 | Â |
Digestive system | 1 | 0 | Â | 1 | 0 | Â |
Total | 96 | 27 | 28.1% | 49 | 8 | 16.3% |