PMC9294376_01
Congenital heart defects detected in the fetus by prenatal ultrasound examination. A 0.41-cm ventricular septal defect and overriding aorta (A) were detected in the fetus by prenatal ultrasound examination. In addition, pulmonary artery stenosis (B) and persistent left superior vena cava (C) were also observed.
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F1
However, at the gestational age of 23+2 weeks, three-level color Doppler ultrasound examination results revealed abnormal heart defects in the fetus, including tetralogy of fallot (ventricular septal defect, overriding aorta, and pulmonary artery stenosis), coronary sinus enlargement, and persistent left superior vena cava (Figure 1).
Identification of the KCNH2 mutation in the family using the WES technology and Sanger sequencing. (A) Novel nonsense mutation in the KCNH2 gene was identified in the fetus by WES. (B) Mutation of c.1907C > G was confirmed by Sanger sequencing. Parental Sanger sequencing revealed that her mother carried the same mutation (C), while the mutation was not found in her father (D).
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F2
A novel nonsense mutation of c.1907C > G (p.S636*) in the KCNH2 gene was identified in the fetus by WES technology, which was inherited from the mother and further confirmed by Sanger sequencing (Figure 2).