Albana Cerekja MD. PhD.*, Flavia Ventriglia MD**, Vanessa Martucci MD**, Carlo Figliolini MD PhD***, Juan Piazze MD PhD****
* Ultrasound Division, ASL Roma B, Rome, Italy.
** Pediatric Cardiology. Policlinico Umberto I. University “La Sapienza” Rome, Italy
*** Reparto di ostetricia e ginecologia, Ospedale Fatebenefratelli San Pietro Rome, Italy.
**** Ultrasound Division, Ceprano Hospital, Ceprano, Italy.
This is a case of a tetralogy of Fallot diagnosed at 22 weeks gestation in a 28-year-old patient G2P1 with non-contributive personal and family history. The previous ultrasound examination was performed at 9 weeks of gestation and was reported as normal.
At 22 weeks, ultrasound exam revealed the following cardiac findings: ventricular septal defect, overriding aorta, slight dilatation of the aortic root and ascending aorta and mild pulmonary stenosis with no signs of flow obstruction. All findings were suggestive of tetralogy of Fallot.
Extra-cardiac findings included: borderline width of the lateral brain ventricles (9.5 mm), mild micrognathia, bilateral short hallux.
Parents decided on the pregnancy termination based on the above findings. Karyotype testing was not performed and autopsy was declined.
Images 1,2: Image 1 shows the fetal profile with normal nasal bone and mild micrognathia. Image 2 shows a normal cerebellum and borderline width of the lateral ventricles.
Images 3,4: 4-chamber view with normal cardiac axis. Image 4 shows a mild mitral regurgitation.
Images 5,6: Image 5 shows a ventricular septal defect (red color Doppler). Image 6 shows a main pulmonary artery.
Images 7,8: Images show a three-vessel view plane view with stenotic pulmonary artery and aorta. Aorta measured 6.3 mm and main pulmonary artery 3.9 mm.
Images 9,10: 3-vessel view, note the mild difference between the diameter of the aorta and pulmonary artery.
Images 11,12: Overriding aorta.
Images 13,14: Left outflow tract with overriding aorta (arrow). The course of the aorta is parallel to the ventricular septum.
Images 15,16: Image 15 shows an aortic arch. Image 16 shows a normal pulse wave of the ductus venosus.
Images 17: Both feet with shortened hallux.
Videos 1,2: Video 1 shows a color Doppler of the right ventricular outflow view showing the pulmonary artery dividing into right pulmonary artery and ductus crossing the aortic valve. Video 2 shows a color Doppler of the 3-vessel view.
This is a case of a G1 P0 with a personal history of thyroidectomy for the adenocarcinoma of the thyroid gland. Her family was non-contributive. Her first trimester ultrasound scan at 13 weeks of gestation was reported as normal (NT=1.6mm, CRL=61 mm). Amniocentesis at 16 weeks of gestation was normal, karyotype 46,XY.
The patient was referred for a suspicion of truncus arteriosus and non visualized pulmonary artery on the ultrasound anomaly screening performed at a different facility.
Our ultrasound exam performed at 23 weeks of gestation revealed the following findings which were suggestive of tetralogy of Fallot: ventricular septal defect, overriding aorta and pulmonary stenosis.
The microdeletion of 22q11 was not detected. After an extensive counseling, parents decided to continue in their pregnancy.
The follow-up exam at 32 weeks of gestation showed a marked pulmonary stenosis with no reverse flow. The fetal growth was in the 25th percentile and there was a normal amount of the amniotic fluid.
A patient delivered via planned cesarean section at 39 weeks of gestation. The newborn weighted 3050 grams and Apgar score was 8/9 at 1st/5th minute respectively. The neonate was transferred to a cardiology unit for surgery. Postnatal echocardiography confirmed prenatal findings. Newborn oxygen saturation was good. Unfortunately, neonate died 4 days after delivery due to a sudden cardiorespiratory arrest with a consecutive multiple organ failure.
Images 1,2: 23 weeks, Image 1 shows a 4-chamber view with a normal cardiac axis. Image 2 shows a color Doppler demonstrating the filling of both ventricles.
Images 3,4: Image 3 shows the ventricular septal defect (arrow). Image 4, color Doppler demonstrating the blood flow through the septal defect.
Images 5,6: Image 5 shows the color Doppler of the overriding aorta. Image 6 shows an aortic arch.
Image 7: 3-vessel view with thymus.
Images 8,9: 32 weeks, 4-chamber view.
Images 10,11: Aorta and ventricular septal defect.
Images 12,13: Image 12 shows a 3-vessel view with stenotic pulmonary artery (4.1 mm) and aorta (6.3 mm). Image 13 shows an aortic arch.
Images 14: Ductal arch.
Videos 1,2: Video 1 shows a color Doppler of a 3-vessel view, note a different diameter of the pulmonary artery and aorta. Video 2 shows an overriding aorta.
Videos 3,4: Video 3 shows the main pulmonary artery dividing into right pulmonary artery and ductus arteriosus and aorta, the diameter of the pulmonary artery is markedly smaller than the diameter of the aorta. Video 4 shows a 4-chamber view with a ventricular septal defect.