1 Pediatric Cardiology. Policlinico Umberto I. University “La Sapienza” Rome, Italy.
2 Ultrasound Division, ASL Roma B, Rome, Italy.
3 Department of Prenatal Diagnosis, Fetal-Maternal Medical Centre "ARTEMISIA" Rome, Italy
4 Ultrasound Division, Ceprano Hospital, Ceprano, Italy.

(Edited by Franti)

Case report

A 35-year-old woman (G1P0) with unremarkable medical history presented to our unit at 20 weeks 4 days of gestational age. She has done neither the first nor the second trimester screening tests for aneuploidies. Amniocentesis was not performed due to threatened miscarriage until 18 weeks.

Our examination found a complete atrioventricular septal defect (AVSD) of the fetus. Furthermore, pulmonary artery looked small and aorta looked overriding the VSD suggesting an associated tetralogy of Fallot. Long bones were short (below 5th percentile). Macroglossia was also present, although in resting tongue it was not very evident.

Amniocentesis was performed and the QFPCR technique revealed a karyotype 47,XX+21. The couple opted for termination of pregnancy.

Images 1, 2, 3, and 4: 20 weeks, 4 days of gestational age. The images show sagittal scans of the fetal head with macroglossia, which is evident predominantly in the sticking out phase of the tongue (Images 1 and 2 - the tongue is highlighted by white color on the image 2). During the resting phase (Images 3, 4) the macroglossia was not so evident.

Images 5, 6: 20 weeks, 4 days of gestational age. The images show coronal scan of the fetal lips showing the tongue protrusion (arrow on the Image 6) due to macroglossia.

Images 7, 8, 9, 10, 11, 12, 13, and 14: 20 weeks, 4 days of gestational age. The images show series of normal findings of the fetus: normal nuchal thickness and width of the lateral cerebral ventricles (Images 7, 8, 9, 10); normal fetal spine (Image 11); normal renal pelvises (Image 12); normal umbilical cord (Image 13), and normal fetal feet (Image 14).

Images 15: 20 weeks, 4 days of gestational age. The images show femur and humerus shortening  (below 5th percentile).

Images 16, 17, 18, and 19: 20 weeks, 4 days of gestational age. The images show transverse scan of the fetal chest at the level of the four-chamber view of the heart. Complete atrioventricular septal defect is visible.

Videos 1, 2: 20 weeks, 4 days of gestational age. The videos show gray scale (Video 1) and color Doppler (Video 2) transverse scans of the fetal chest at the level of the four-chamber view of the heart. Atrioventricular septal defect is visible.

Images 20, 21: 20 weeks, 4 days of gestational age. The image 20 shows color Doppler transverse scan of the fetal heart at the level of the four-chamber view with atrioventricular septal defect. The image 21 shows color Doppler transverse scan of the fetal heart at the level of the five-chamber view with overriding aorta (in blue).

Images 22, 23: 20 weeks, 4 days of gestational age. The images show transverse scan of the fetal chest at the level of the three-vessel-trachea view with slightly dilated aorta and narrow pulmonary artery.