Fetal pulmonary atresia with ventricular septal defect :echocardiographic findings ,associated anomalies and chromosomal characteristics
10.3760/cma.j.issn.1004‐4477.2019.04.004
- VernacularTitle:胎儿肺动脉闭锁伴室间隔缺损的超声表现、合并畸形及染色体特征
- Author:
Jiancheng HAN
1
;
Xihui YANG
;
Xiaoyan HAO
;
Xin WANG
;
Hairui SUN
;
Xiaowei LIU
;
Lin SUN
;
Xiaoyan GU
;
Ye ZHANG
;
Ying ZHAO
;
Zhuo CHEN
;
Yong GUO
;
Xuejing JI
;
Yihua HE
Author Information
1. 首都医科大学附属北京安贞医院超声心动二部100029
- Keywords:
Echocardiography;
Heart septal defect,ventricular;
Pulmonary atresia;
Prenatal diagnosis;
Chromosomal aberrations
- From:
Chinese Journal of Ultrasonography
2019;28(4):295-300
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the echocardiographic findings , associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect ( PA/VSD ) . Methods T he echocardiographic data and follow‐up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to M arch 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 . T he echocardiographic findings ,associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD . Based on w hether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries ( M APCAs) or not ,the PA‐VSD was classified into type A ,type B ,and type C . Results A large ventricular defect was demonstrated in five‐chamber view with 61 .7% of the mean ratio of the aortic overriding . O ther 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 ) ,M APCAs ( n ＝24) . T he 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 . Conclusions The 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 ,w hich can be helpful for prenatal consulting .
