Prenatal Diagnosis of Berry Syndrome by Fetal Echocardiography

Berry syndrome is an uncommon type of congenital cardiac malformation, which was first reported by Berry et al1 in 1982. It is characterized by a constellation of abnormal features, including a distal aortopulmonary window, an aortic origin of the right pulmonary artery (PA), and an interrupted aortic arch with an intact ventricular septum. More cases of Berry syndrome have been described since 1982, which indicates that the combination of malformations is a specific syndrome rather than a random coincidence. Most cases were diagnosed postnatally,2 although some were diagnosed interoperatively.3 Some of the cases had favorable outcomes after surgical intervention,2,4 whereas some failed.3 To our knowledge, the following case is the first incidence of Berry syndrome that was diagnosed prenatally in China. A 28-year-old parous woman, whose fetus had a diagnosis of an aortopulmonary window by fetal echocardiography at 26 weeks’ gestation during her second pregnancy, was transferred to our center for consultation. Fetal echocardiography performed at our center at 27 weeks showed the following findings: (1) The cardiac axis, cardio thoracic ratio, and left and right heart ratios were normal in the a 4-chamber view. (2) A 6-mm defect between the aorta and pulmonary trunk in the left outflow tract and aortic arch was detected on long-axis and 3-vessel views. Bidirectional shunt flow, indicating an aortopulmonary window, was shown on color Doppler flow imaging (Figure 1a). (3) The 3-vessel view showed normal locations of the aorta and PA; the right PA originated from the ascending aorta, and the left PA originated from the pulmonary trunk. No notable difference in the inner diameters was detected between the right and left PAs (Figure 1b). (4) The ratio of the inner diameter of the proximal segment of the aorta to the PA was normal. Color Doppler flow imaging showed a gradual decrease in the aortic diameter and interruption of the aorta after the origin of its 3 branches (Figure 1c). (5) The descending aorta was connected to the ductus arteriosus, which originated from the PA trunk. (6) An intact ventricular septum and normal mitral and tricuspid valves were shown. A prenatal diagnosis of Berry syndrome was made on the basis of the above findings. Spontaneous labor occurred at 39 weeks 1 day, and a 3120-g male neonate was born. He presented with paroxysmal tachypnea and was crying with perioral and paranasal cyanosis. A prominent pulmonary component of the second heart sound was heard. The capillary oxygen saturation values for the upper and lower extremities were 92% and 88%, respectively. Postnatal transthoracic echocardiography confirmed the prenatal diagnosis. Prostaglandin E1 was infused to keep the ductus arteriosus open. The neonate developed pneumonia and heart failure and died 63 days postnatally after his family stopped all treatments. In this case, an aortopulmonary window was the first abnormal sign detected by fetal echocardiography, which was consistent with many cases reported previously. Usually, an aortopulmonary window is most easily diagnosed from the 3-vessel view during the fetal period. Radiologists should seek other coexisting malformations once an aortopulmonary window is confirmed. Bifurcation of the PA can be seen if one tilts the ultrasound probe about 5° to 10° to the side of the fetal head in the 3-vessel view. We found the “butterfly sign” by this method (Figure 1b), which is a description of the sonographic appearance caused by the origin of the right PA from the ascending aorta. It is known that during embryogenesis, an abnormal origin of the right PA may lead to a “steal” of aortic flow and cause hypoplasia of the aortic arch.1 If malattachment of the right PA or an abnormal PA-to-aorta ratio is detected, aortic arch dysplasia should be suspected. In this way, we found that the aorta went upward steeply, which was different from the normal arc, and became thinner gradually and then was interrupted after branching of the left subclavian artery. Some other case reports of Berry syndrome described malformations accompanied by familial limb deformities,3 trisomy 13,5 and an anomalous origin of the left coronary artery.6 We do not know whether those coexisting malformations are potential causes of Berry syndrome. No other accompanied malformations were found after birth in our case. Accurate prenatal diagnosis and exact recognition of the anomalies are the key points for possible surgical repair. Our experience can help improve the detection rate and diagnosis of Berry syndrome.