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Table 3 Comparison of the distribution of chromosomal abnormalities and clinically significant CNVs among different types of fetal kidney anomalies

From: Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?

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