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Table 5 Characteristic of the fetuses with copy number variants detected by chromosomal microarray analysis among 88 fetuses with TOF and normal karyotype

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
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
  1. CMA chromosomal microarray analysis, TOP termination of pregnancy, VOUS variations of uncertain significance, IUD intrauterine death