Table 3.
Comparison of the distribution of chromosomal abnormalities and clinically significant CNVs among different types of fetal kidney anomalies
| 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) |
CNVs copy number variants
aIncluding renal agenesis, renal dysplasia, multicystic dysplastic kidney, cystic kidney or polycystic kidney
bPresence of at least two types of the kidney anomalies described above
cIncluding fetuses with soft markers and fetuses with extrarenal structural anomalies, fetal growth restriction, hydrops fetalis or abnormal amniotic fluid volume
dIncluding chromosomal abnormalities and clinically significant CNVs