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Table 4 The prenatal ultrasound findings and clinical outcomes in the eight fetuses with TOF and chromosomal abnormalities

From: Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis

Case Intracardiac anomalies Extracardiac defects Fetal karyotype CMA findings Pathological significance Outcome
2 Right aortic arch Ventricularmegaly 47, XYY arr[hg]X × 1, Y × 2 Yes Survival
25 Hypoplasia of the nasal bone, short long bone, nuchal fold thickening 47, XX, + 21 arr21q11.2q22.3(15,190,686-48,097,372) × 3 Yes Selective reduction
26 Strawberry-shaped skull, long-eyebrows, overlapping fingers, hypoplasia of the thymus 47, XX, + 18 arr18p11.32q23(136,227-78,013,728) × 3 Yes TOP
34 Endocardial cushion defect Ventricularmegaly, hypoplasia of the nasal bone, short lone bone, echogenic bowl 47, XY, + 21 arr21q11.2q22.3(15,190,868-48,097,372) × 3 Yes TOP
43 Ventricularmegaly, hypoplasia of the nasal bone, hypoplasia of the phalanx, short long bone 47, XY, + 21 arr21q11.2q22.3(15,190,868-48,097,372) × 3 Yes TOP
50 Right aortic arch, ductus arteriosus not visualized Nuchal fold thickening 47, XY, + 21 arr21q11.2q22.3(15,190,868-48,097,372) × 3 Yes Survival
88 Hypoplasia of the nasal bone, short long bone, nuchal fold thickening, echogenic bowl 47, XY, + 21 arr21q11.2q22.3(15,190,868-48,097,372) × 3 Yes TOP
93 Hypoplasia of the nasal bone, short long bone 46, XX, t(7;10)(q36;q22) arr[hg] (1–22) ×2, X × 2 TOP
  1. CMA chromosomal microarray analysis, TOP termination of pregnancy