Case | Intracardiac anomalies | Extracardiac defects | Fetal karyotype | CMA findings | Pathological significance | Outcome |
---|---|---|---|---|---|---|
8 | Right aortic arch, persistent left superior vena cava | Hypoplasia of the thymus | 46, XX | arr22q11.21 (18,916,842-21,798,907) × 1, 2.882 Mb | Yes | TOP |
3 | Persistent left superior vena cava, aberrant right subclavian artery | – | 46, XY | arrYq11.223q11.23 (24,988,143-28,423,925) × 2, 3.436 Mb | Yes | Selective reduction |
19 | – | Single umbilical artery | 46, XX | arr2p24.3 (13,529,731-14,360,751) × 3, 831Kb | VOUS | TOP |
35 | – | – | 46, XY | arrYq11.223q11.23 (24,651,462-28,423,925) × 2, 3.772 Mb | Yes | Survival |
46 | – | Single umbilical artery, hypoplasia of the nasal bone, heterogeneous echo pattern of the liver | 46, XX | arr16p13.3 (1,988,121-2,551,691) × 3, 564Kb | VOUS | IUD |
51 | – | – | 46, XY | arr8p23.3 (1,974,181-2,193,914) × 1, 219Kb; arr8p23.2 (2,202,357-2,730,902) × 3, 529Kb; arr14q11.2 (22,624,119-22,940,347) × 1, 316Kb | VOUS, VOUS, benign | TOP |
62 | – | Hypoplasia of the thymus, low-set ears | 46, XX | arr 22q11.21 (18,916,842-21,465,659) × 1, 2.549 Mb | Yes | Selective reduction |
67 | Right aortic arch | Nuchal thickening | 46, XY | arr 22q11.21 (18,916,842-21,798,907) × 1, 2.882 Mb | Yes | TOP |
95 | Right aortic arch | Hypoplasia of the thymus | 46, XY | arr22q11.21 (18,636,749-21,800,471) × 1, 3.164 Mb | Yes | TOP |