A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects.

A 30‐year‐old woman, gravida 2 para 0. Her first pregnancy at 2012 was diagnosed to be dichorionic twin pregnancy and her second pregnancy at 2014 was a singleton pregnancy. After a routine ultrasound scan at 22 week’s gestation, all the fetuses were diagnosed with critical CHDs. The first fetus (male) exhibited tetralogy of Fallot, atrial septal defect, persistent left superior vena cava, and coronary sinus dilatation while the examination of the second fetus (male) revealed atrioventricular septal defect and hypoplastic left heart syndrome. The third fetus (female) was also diagnosed with an atrioventricular septal defect and hypoplastic left heart syndrome. The parents decided to terminate the pregnancy.