Table 3.
WES diagnostic yield in fetal renal abnormalities with negative CMA/CNV-seq results
| Prenatal renal anomalies (HPO term) |
Total cases N |
Cases diagnosed by WES |
Non-isolated cases | Isolated cases | ||
|---|---|---|---|---|---|---|
| Total cases | Diagnosed cases | Total cases | Diagnosed cases | |||
| More than one renal anomaly | 18 | 4(22.2%) | 3 | 1(33.3%) | 15 | 3(20%) |
|
Polycystic kidneys HP:0000113 |
16 | 3(18.8%) | 3 | 2(66.7%) | 13 | 1(7.7%) |
|
Unilateral renal agenesis HP:0000104 |
12 | 2(16.7%) | 3 | 1(33.3%) | 9 | 1(11.1%) |
|
Hyperechogenic kidneys HP:0004719 |
7 | 2(28.6%) | 6 | 2(33.3%) | 1 | |
|
Hydronephrosis HP:0000126 |
6 | 5 | 1 | |||
|
MCDK HP:0000003 |
5 | 1(20%) | 1 | 1 | 4 | |
|
Ectopic kidney HP:0000086 |
5 | 2 | 3 | |||
|
Renal duplication HP:0000075 |
2 | 2 | ||||
|
Renal dysplasia HP:0000110 |
2 | 1 | 1 | |||
|
Renal cysts HP:0000107 |
2 | 2 | ||||
|
Horseshoe kidney HP:0000085 |
1 | 1 | ||||
| Total | 76 | 12(15.8%) | 28 | 7(25%) | 48 | 5(10.4%) |
Abbreviations: HPO, Human Phenotype Ontology; HP, the HPO Term Identifier. MCDK, multicystic dysplastic kidney