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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