Table 2 Characterization of CMA results identified in isolated and nonisolated fetal kidney anomalies
Types of fetal kidney anomalies | n | Abnormal findings | Chromosomal abnormalities (≥10 Mb) | Clinically significant CNVs (< 10 Mb) | Total known pathogenic or likely pathogenic findings b | VOUS | AOH | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
n (%) | Aneuploidy | Segmental deletion/duplication | Total (%) | Pathogenic | Likely pathogenic | Total (%) | n (%) | n (%) | |||
Isolated anomalies | 208 | 21 (10.1) | 1 | 2 | 3 (1.4) | 7 | 0 | 7 (3.4) | 10 (4.8) | 8 (3.8) | 3 (1.4) |
Nonisolated anomalies | 123 | 26 (21.1) | 5 | 1 | 6 (4.9) | 6 | 3 | 9 (7.3) | 15 (12.2) | 7 (5.7) | 4 (3.3) |
 with soft markers | 37 | 8 (21.6) | 2 | 0 | 2 (5.4) | 0 | 2 | 2 (5.4) | 4 (10.8) | 4 (10.8) | 0 |
 with additional anomalies a | 86 | 18 (20.9) | 3 | 1 | 4 (4.7) | 6 | 1 | 7 (8.1) | 11 (12.8) | 3 (3.5) | 4 (4.7) |
Total (%) | 331 | 47 (14.2) | 6 (1.8) | 3 (0.9) | 9 (2.7) | 13 (3.9) | 3 (0.9) | 16 (4.8) | 25 (7.6) | 15 (4.5) | 7 (2.1) |