Clinical Research
Fetal pulmonary atresia with ventricular septal defect: echocardiographic findings, associated anomalies and chromosomal characteristics
Han Jiancheng, Yang Xihui, Hao Xiaoyan, Wang Xin, Sun Hairui, Liu Xiaowei, Sun Lin, Gu Xiaoyan, Zhang Ye, Zhao Ying, Chen Zhuo, Guo Yong, Ji Xuejing, He Yihua
Published 2019-04-25
Cite as Chin J Ultrasonogr, 2019,28(4): 295-300. DOI: 10.3760/cma.j.issn.1004-4477.2019.04.004
Abstract
ObjectiveTo analyze the echocardiographic findings, associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect (PA/VSD).
MethodsThe echocardiographic data and follow-up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to March 2018 in the consultation center of fetal heart disease in maternal-fetal medicine in Anzhen hospital. Of all the fetuses, 59 cases (0.19%) had PA/VSD. The echocardiographic findings, associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD. Based on whether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries (MAPCAs) or not, the PA-VSD was classified into type A, type B, and type C.
ResultsA large ventricular defect was demonstrated in five-chamber view with 61.7% of the mean ratio of the aortic overriding. Other fetal echocardiographic features of all the 59 fetuses with PA/VSD included: the right aortic arch (n=19), reversal flow in the ductus arteriosus (n=40), MAPCAs (n=24). The classification of the PA/VSD included: type A (n=35), type B (n=5) and type C (n=19). Associated anomalies: persistent left superior vena cava (n=13), anomalous pulmonary vein connection (n=5), complete atrioventricular septal defect (n=5); single umbilical artery (n=3), right atrial isomerism (n=3). Of all the 30 cases performed chromosomal test, 3 cases had aneuploidy and 7 cases had microdeletion of chromosome.
ConclusionsThe fetal echocardiographic findings of the PA/VSD are characteristic. For prenatal diagnosis of PA/VSD, the type of PA/VSD should be defined and chromosomal test should be performed, which can be helpful for prenatal consulting.
Key words:
Echocardiography; Heart septal defect, ventricular; Pulmonary atresia; Prenatal diagnosis; Chromosomal aberrations
Contributor Information
Han Jiancheng
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Yang Xihui
Department of Ultrasound, Maternal and Child Health Hospital of Xinjiang Uyghur Autonomous Region, Urumqi 830000, China
Hao Xiaoyan
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Wang Xin
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Sun Hairui
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Liu Xiaowei
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Sun Lin
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Gu Xiaoyan
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Zhang Ye
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Zhao Ying
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Chen Zhuo
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Guo Yong
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
Ji Xuejing
Department of Ultrasound, Maternal and Child Health Hospital of Xinjiang Uyghur Autonomous Region, Urumqi 830000, China
He Yihua
Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China
