A 20-week-old fetus with the 22q11.2 deletion characteristic of DiGeorge syndrome is described with vertebral segmentation abnormalities and complex cardiovascular anomalies including an absent aortic valve. This is only the second known case of absent aortic valve in association with DiGeorge syndrome. We discuss the association of absent aortic valve with other conotruncal defects and the utility of fetal echocardiography in the diagnosis of DiGeorge syndrome.
- 22q deletion syndrome
- Absent aortic valve
- Aortic valve anomalies
- DiGeorge syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine