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Table 4 Chromosomal abnormalities inherited from unaffected parents in VSD fetuses

From: Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Case Prenatal ultrasound Abnormal fetal chromosomes Pathogenicity classification Inheritance Postnatal outcome
1 VSD 46,XX,inv.(9)(p12q13) B Maternal TD
2 VSD 46,XY,13pstk+ B Maternal TD
3 VSD, TR arr[hg19]5q14.1(76,983,283-77,512,158) × 3 B Maternal TD
4 VSD, single umbilical artery arr[hg19]10q21.1(59,095,330-60,684,488) × 1 B Maternal TD
5 VSD, RAA, left kidney dysplasia arr[hg19]16q23.2q24.3(79,800,878-90,146,366)hmz,16p13.3p12.3(94,807-19,302,326)hmz P (LOH) Maternal Normal phenotype TP
  1. B benign, P pathogenic, RAA right aortic arch, TD term delivery, TP termination of pregnancy, TR tricuspid regurgitation, VSD ventricular septal defect, LOH loss of heterozygosity