Prenatal diagnosis 22q11.2 deletion syndrome with cross ribbon sign

ABSTRACT

22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in human with a wide spectrum of clinical features, and a leading cause of congenital conotruncal heart defects and neurodevelopmental delay. Cross ribbon sign is the pathognomonic image of a rare aortic arch anomaly with left aortic arch and right ductus arteriosus.

There was only one case reported prenatally.We present a case of 22q11.2DS with only rare and subtle signs as cross ribbon sign detected in early second trimester ultrasound.This was the second pregnancy of a 29-years-old woman with a healthy previous child, who was referred to our center at 18 weeks of GA. FTS showed NT 1.2mm and low risk NIPT for common trisomies.

Fetal echocardiography showed right ductus arteriosus with left aortic arch creates vascularing – “cross ribbon sign”, cervical aortic arch, absent thymus and bulbous nose. Amniocentesis with microarray show deletion 22q11.2 with 2.8 Mb in size.22q11.2 deletion syndrome can present with minor great artery anomalies that could be only detected on second trimester ultrasound. To our knowledge, this is the first prenatal case of cross ribbon sign in literature associated with 22q11.2DS