Types of fetal kidney anomalies | Total | Isolated anomalies | Nonisolated anomalies c | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
n | Chromosomal abnormalities (≥10 Mb) | Clinically significant CNVs (< 10 Mb) | Total d n (%) | n | Chromosomal abnormalities (≥10 Mb) | Clinically significant CNVs (< 10 Mb) | Total d n (%) | n | Chromosomal abnormalities (≥10 Mb) | Clinically significant CNVs (< 10 Mb) | Total d n (%) | |||||
Aneuploidy | Segmental deletion/duplication | Total (%) | Pathogenic | Likely pathogenic | Total (%) | |||||||||||
Malformations of the renal parenchyma a | 149 | 1 | 1 | 2 (1.3) | 6 | 1 | 7 (4.7) | 9 (6.0) | 93 | 0 | 3 (3.2) | 3 (3.2) | 56 | 2 (3.6) | 4 (7.1) | 6 (10.7) |
Anomalies of the urinary collecting system | 116 | 3 | 2 | 5 (4.3) | 2 | 2 | 4 (3.4) | 9 (7.8) | 74 | 2 (2.7) | 1 (1.4) | 3 (4.1) | 42 | 3 (7.1) | 3 (7.1) | 6 (14.3) |
 Hydronephrosis | 80 | 3 | 2 | 5 (6.3) | 2 | 1 | 3 (3.8) | 8 (10.0) | 53 | 2 (3.8) | 1 (1.9) | 3 (5.7) | 27 | 3 (11.1) | 2 (7.4) | 5 (18.5) |
 Duplex kidney | 36 | 0 | 0 | 0 | 0 | 1 | 1 (2.8) | 1 (2.8) | 21 | 0 | 0 | 0 | 15 | 0 | 1 (6.7) | 1 (6.7) |
Abnormal embryonic migration of the kidneys | 61 | 2 | 0 | 2 (3.3) | 4 | 0 | 4 (6.6) | 6 (9.8) | 38 | 1 (2.6) | 2 (5.3) | 3 (7.9) | 23 | 1 (4.3) | 2 (8.7) | 3 (13.0) |
 Ectopic kidney | 42 | 0 | 0 | 0 | 4 | 0 | 4 (9.5) | 4 (9.5) | 25 | 0 | 2 (8.0) | 2 (8.0) | 17 | 0 | 2 (11.8) | 2 (11.8) |
 Horseshoe kidney | 19 | 2 | 0 | 2 (10.5) | 0 | 0 | 0 | 2 (10.5) | 13 | 1 (7.7) | 0 | 1 (7.7) | 6 | 1 (16.7) | 0 | 1 (16.7) |
Combination of kidney anomalies b | 5 | 0 | 0 | 0 | 1 | 0 | 1 (20.0) | 1 (20.0) | 3 | 0 | 1 (33.3) | 1 (33.3) | 2 | 0 | 0 | 0 |
Total (%) | 331 | 6 | 3 | 9 (2.7) | 13 | 3 | 16 (4.8) | 25 (7.6%) | 208 | 3 (1.4) | 7 (3.4) | 10 (4.8) | 123 | 6 (4.9) | 9 (7.3) | 15 (12.2) |