Neck edema. An echographic sign of trisomy 21 in pregnancy

: Ultrasound examination was performed in a 45 year-old pregnant woman at 17 weeks gestation. A morphologic abnormality was seen of the nape which could not be interpreted. Amniocentesis could not be performed. Termination of pregnancy by hysterotomy was carried out. Postmortem examination showed an intact fetus with a soft tissue thickening at the back of the neck and a ventricular septal defect. Chromosomal analysis was reported as 47,XY,+21. This case demonstrates that an excess of skin of the foetal nape can be seen at ultrasound examination and may suggest a Down syndrome.