Case report 1:

Trisomy 21 with atrio-ventricular defect, continue pregnancy

Fabrice Cuillier, MD.; Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

This is a 30-year-old woman (G2P1), who was referred to our antenatal unit at 25 weeks for a cardiopathy. An abnormal nuchal translucency (3 mm / 58 mm at 12 weeks), was noted. There was no known family history of congenital disease. The patient did not take any medication. She stayed in Reunion’s Island. An amniocentesis was done at 16 weeks (46XY + 21).  The patient was then seen in our antenatal unit at 25 weeks.

We noted :

• Normal ears insertion

• Normal fingers without clinodactyly

• Normal profile face

• Cardiac situs solitus with atrio-ventricular defect. Atrio-ventricular canal was present with two atrio-ventricular valves. The doppler did not show ventricular-atrial regurgitation.

• Normal aortic diameter and pulmonary artery diameter.

• Normal atrio-ventricular and ventriculo-arterial concordance were note.

• The inferior vena cava and the left vena cava were seen. The pulmonary vein was probably on the left atria.

• The face and the brain were normal . There was no choanal hypoplasia.

Figures 2, 3 : 2D four chambers view of the heart showing atrio-ventricular canal with two AV valves.

Figures 4-7 : 2D doppler four chambers view of the heart showing atrio-ventricular canal with two AV valves, without reflux. Color and pulsed doppler ultrasound showed abnormal flow between ventricles.

Figure 8 : 2D view of the heart showing normal ventriculo-arterial concordance.

Video :

Case report 2, 3:  Moshe Bronshtein, MD.  Haifa Israel Trisomy 21 with atrio-ventricular defect, at 11 weeks,  3rd, low risk pregnancy, maternal age 36, the nuchal translucency was abnormal (4 mm+ )