Skip to main content

Table 1 Pathogenic CNVs of 6 fetuses detected by CMA

From: Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities

No. Indication CMA result Size (Mb) Pregnancy outcome
1 Multi-cystic kidney arr [hg19] 17q12(34,822,465-36,404,555)×1 1.58 Birth. Polycystic renal dysplasia
2 Separation of renal pelvis arr [hg19] 17q12(34,822,465-36,307,773)×1 1.48 Birth. No obvious abnormality
3 Increased echogenicity of the kidneys arr [hg19] 17q12(34,822,465-36,404,555)×1 1.58 Birth. Abdominal distension
4 Much amniotic fluid arr [hg19] 17q12(34,822,465_36,404,104)×3 1.58 Birth. No obvious abnormality
5 Hydronephrosis arr [hg19] 17q12(34,822,465-36,243,365)×1 1.42 TOP
6 Bilateral dysplastic kidneys arr [hg19] 17q12(34,822,465-36,404,104)×1 1.58 TOP
  1. TOP termination of pregnancy