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Table 2 Characterization of CMA results identified in isolated and nonisolated 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 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)
  1. CNVs copy number variants, VOUS variants of uncertain significance, AOH absence of heterozygosity
  2. aIncluding fetuses with extrarenal structural anomalies, fetal growth restriction, hydrops fetalis or abnormal amniotic fluid volume
  3. bIncluding chromosomal abnormalities and clinically significant CNVs