Prenatal diagnosis of absent pulmonary valve syndrome with deletion chromosomal 6q24.1-q25.2

A 25-years-old woman G1P0 has been refered to our center due to thick nuchal translucency. 

Our sonography examination reveals NT 4.7 mm, cystic hygroma, overriding aorta with to and fro flow across in pulmonary artery without dilated PA and its branches.

Amniocentesis with CNV seq was done with deletion of chromosomal 6q24.1-q25.2 11.2Mb of size.

After carefully conselling, patient chose termination of pregnancy. 

On ultrasound examination before TOP, the diagnosis of TOF APVS was confirmed with typical signs include overriding aorta, dilated PA and its branches, to and fro flow across PA valve.