Gedikbasi Ali, Oztarhan Kazim, Yararbas Kanay, Arslan Oguz, Yildirim Dogukan, Oztek Ibrahim, Ceylan Yavuz
Department of Obstetrics and Gynecology, Istanbul Bakirkoy Maternity and Children Diseases Hospital, Turkey.
Fetal Pediatr Pathol. 2010;29(5):330-7. doi: 10.3109/15513815.2010.494699.
Turner syndrome is associated with a higher frequency of heart defects detected prenatally when compared to postnatal reports. The most common heart defects detected prenatally are hypoplastic left heart syndrome and coarctation of the aorta. We report a case involving a fetus at 16 gestational weeks with a septated cystic hygroma located on the neck and head, an interventricular septal mass, a hypoplastic left ventricle due to aortic stenosis, mitral stenosis, and a hypoplastic aortic arch with a karyotype of mos 45, X, [47 cells]/47, XXX [3 cells]. The autopsy findings confirmed our prenatal diagnosis with a final diagnosis of Turner syndrome and congenital cardiac vascular malformation.