*    Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
**   Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Paul, Ile de la Réunion, France;
***  Department of Foetopathology, GHSR, 97400 Saint-Pierre, Ile de la Réunion, France.

Case report

A 30-year-old woman (G2P0), with a noncontributive history, was referred to our unit at 19-week of pregnancy due to abnormal cardiac and spinal findings. Our ultrasound examination showed:

• tetralogy of Fallot;

• kyphoscoliosis due to a hemivertebrae;

• single umbilical artery; and

• micrognathia.

The parents opted for the termination of the pregnancy. Before the procedure an amniocentesis was done and a normal karyotype found. The pathological study confirmed the tetralogy of Fallot and hemivertebrae. Additionally a tracheo-esophageal fistula was discovered. The findings were consistent with the VACTERL syndrome.

The VACTERL is a mnemonic acronym for an association of V (vertebral anomalies), A (anal atresia), C (cardiac anomalies), TE (tracheoesophageal fistula or esophageal atresia), R (renal/urinary anomalies), and L (limb defect). A diagnosis of this condition requires the presence at least three of the seven cardinal anomalies of the association. The most frequent described defects are the tracheoesophageal fistula and anal or vertebral anomalies.

Images 1, 2: 19-week; the images show the four-chamber-view of the heart with ventricular septal defect.

Images 3, 4:  overriding aorta.

Images 5, 6: Stenotic pulmonary artery (right sides of the images) in comparison with the normal aorta (left sides of the images).

Images 7, 8: Scoliotic spine due to the hemivertebrae.

Images 9, 10: The image 9 shows scoliotic spine due to the hemivertebrae. The image 10 shows the umbilical cord and the urinary bladder - the single umbilical artery is visible.

Images 11, 12: the image 11 shows a coronal 3D scan of the spine with the vertebral abnormalities; the image 12 shows 3D scan of the fetal profile with the micrognathia.

Video 1: 19-week ; the video shows the overriding aorta.

Video 2: 19-week ; the video shows the ventricular septal defect at the level of the four-chamber view of the heart.