摘要
Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 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 detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.
Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 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 detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.
基金
This work was supported by grants from the National Natural Science Foundation of China （N o. 81071159）, Beijing Municipal Science and Technology Commission （No. Z 141107002514006） and Beijing Municipal Administration of Hospital Clinical Medicine Development of Special Foundation （No, XMLX201310）.
