India

Case report

A 21-year-old woman (G1P0) underwent ultrasonographic examination at 19 weeks 4 days of gestational age and following findings were noticed:

• thickened nuchal fold of the fetus;
• hypoplastic nasal bone;
• hyperechoic bowels;
• shortened long bones (humerus, femur);
• atrioventricular septal defect was suspected.

Amniocentesis was done and confirmed trisomy 21 (Down syndrome). Here are some images that we obtained.

Images 1, 2:  19 weeks 4 days gestational age; the images show thickened nuchal fold of the fetus.

Images 3, 4:19 weeks 4 days gestational age; the images show hypoplastic nasal bone of the fetus.

Images 5, 6:19 weeks 4 days gestational age; the images show hyperechoic bowels (Image 5) and short humerus (Image 6; the humerus corresponded just to 18 weeks + 1 day gestational age) of the fetus.

Image7:19 weeks 4 days gestational age; atrioventricular septal defect was suspected (red flow via ventricular septal defect).