Prenatal diagnosis of a nasal cyst in association with deletion 22q11 syndrome: a report of two cases.

摘要

The evaluation of the fetal profile in general and the fetal nose in particular is part of a comprehensive ultrasound for fetal anatomy. The evaluation of the nose and nasal bone in screening for Down syndrome has been previously described (Cicero et al., 2003). Microdeletion 22q11 (del.22q11) is a common cause of cardiac defects second to trisomy 21. Deletion of 22q11 is suspected prenatally when cardiac defects, especially conotruncal defects and/or a hypoplastic thymus, are found (Chaoui et al., 2002a). Infants with 22qll deletions have subtle abnormal facial features including the nose in addition to cardiac malformations (Guyot et al., 2001). We hereby report on two fetuses with cardiac defects and nasal abnormalities (cyst at the tip of the nose) in association with 22q11 deletion.