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