Medical Genetic Center, Gomel, Belarus.

Case 1

A 30-year-old woman first time presented to our department at 30 weeks of pregnancy. Our ultrasound examination revealed several anomalies of  the fetus including the interrupted aortic arch, type B, (Images 1, 2), ventricular septal defect (Image 3), and aorto-pulmonary shunt (images 4,5). Fetal karyotype was normal (46, XY). The neonate (male, 2500 g, Apgar 6, 7) was delivered at 34 weeks, but has died soon after delivery due to the cardiac failure. Pathological studies confirmed the diagnosis of the interrupted aortic arch and interventricular septal defect with the aorto-pulmonary shunt (Image 6), and also discovered a hypoplastic thymus (Image 7).

Images 1, 2: The image 1 represents a sagittal scan of the fetal aorta, showing its interrupted part (arrow). The image 2 shows color Doppler sagittal scan of the aortic arch, clearly depicting the interruption of the aorta. As the pathological studies confirmed, the aortic arch was interrupted behind the left common carotid artery (type B of the interruption).

Images 3: The image 3 shows a four-chamber view of the fetal heart with ventricular septal defect. 

Images 4, 5: The images show three-vessel view of the heart. Note the communication between the aorta and pulmonary artery – aorto-pulmonary shunt.

Images 6, 7: Pathological specimens showing the communication between the aorta and pulmonary artery (aorto-pulmonary shunt – Image 6), and hypoplastic thymus (Image 7).

Case 2

A 25-year-old woman (G1P0) presented at 21 weeks. Our ultrasound examination of the fetus revealed a hypoplastic aortic arch depicted at the level of the three-vessel view of the heart (Image 8). The four-chamber view of the heart looked normal (Image 9). Sagittal scan of the fetal aorta revealed the interrupted aortic arch, which was later classified by the pathologist as type C of the interruption. Fetal karyotyping was normal (46, XX). The pregnancy was terminated and the diagnosis was confirmed afterwards.

Images 8, 9: The image 8 shows transverse scan of the fetal thorax at the level of the three-vessel view of the heart. The aorta looks hypoplastic. The image 9 shows normally looking four-chamber view of the heart.

Image 10, 11: The image 10 represents a sagittal scan of the fetal aorta. The interrupted part of the aortic arch can be seen. The image 11 shows two vessels arising from the pulmonary trunk (arrows) - the aortic arch was interrupted just behind the brachiocephalic artery (which can be seen on the image 10, running cranially from the proximal part of the aortic arch). The left common carotid artery and left subclavian artery arose from the pulmonary artery (arrows on the image 11).