Fetal nuchal cystic hygroma associated with aortic coarctation and trisomy 21: a case report

Abstract

We report a case of fetal nuchal cystic hygroma associated with aortic coarctation and trisomy 21. A stillborn baby, delivered at 15 weeks and 5 days of gestation, had a huge nuchal cystic hygroma. Autopsy revealed aortic coarctation of the periductal type with patent ductus arteriosus, endocardial cushion defect and left ventricular hypoplasia. Trisomy 21 was evident by karyotyping. Macroscopically, while an apparent association of nuchal cystic hygroma and aortic coarctation resembled Turner syndrome, histopathological findings were those typically seen in trisomy 21: numerous dilated lymphatics in the subcutaneous tissue with severe mesenchymal edema, and an enlarged jugular lymphatic sac.

Figure 1.

Macroscopic and microscopic findings of the cystic hygroma. (A) a huge nuchal cystic mass measuring 20 × 15 mm is observed around the neck (arrows). Externally, no other apparent malformations are noted. (B) Histopathological examination revealed numerous dilated lymphatics with proliferation of spindle-shaped mesenchymal cells and edema in the subcutaneous area (HE, ×200).

Figure 2.

The heart, from anterior (A) and posterior (B) views. The heart weighted 1.5 g and showed coarctation of the aortic arch (A, asterisks) with prominent patent ductus arteriosus (A and B, arrows).