Rare and Complex Cardiac Anomalies Associated with 22q11.2 Deletion: An Ultrasonographic Visual Trip from Diagnosis until Delivery

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a rare and complex cardiac malformation (interrupted aortic arch (IAA) type B, large malalignment-type ventricular septal defect (VSD), pulmonary valve dysplasia, aberrant right subclavian artery (ARSA). The result of the genetic testing revealed 22q11.2 deletion and after genetic counselling the patient decided to continue the pregnancy. She was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. We emphasize on the ultrasound aspects regarding the cardiac anomaly and specific features of 22q11.2DS in a continuous manner from diagnosis until delivery.